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Gene: Myh10 MGI:1930780

Gene Summary

Name:

myosin, heavy polypeptide 10, non-muscle

Synonyms:

myosin IIB, NMHC II-B, Myhn2, 5730504C04Rik, NMHC-B, 9330167F11Rik, nonmuscle myosin heavy chain II-B, nonmuscle myosin heavy chain IIB, SMemb, Myhn-2, Fltn, Myosin IIB

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal skin coloration	Myh10^em1(IMPC)J	HOM	E15.5	0.00
hemorrhage	Myh10^em1(IMPC)J	HOM	E12.5	0.00
preweaning lethality, complete penetrance	Myh10^em1(IMPC)J	HOM	Early adult	0.00
abnormal pericardium morphology	Myh10^em1(IMPC)J	HOM	E12.5	0.00
hemorrhage	Myh10^em1(IMPC)J	HOM	E15.5	0.00
increased fasting circulating glucose level	Myh10^em1(IMPC)J	HET	Early adult	3.67×10^-05
embryonic growth retardation	Myh10^em1(IMPC)J	HOM	E12.5	0.00
abnormal placenta size	Myh10^em1(IMPC)J	HOM	E15.5	0.00
prenatal lethality prior to heart atrial septation	Myh10^em1(IMPC)J	HOM	E15.5	0.00
edema	Myh10^em1(IMPC)J	HOM	E15.5	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Morphology Embryo E12.5

Images

12 Images

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Eye Morphology

Images Ophthalmoscopy

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Sleep Wake

Wake state (bmp file)

1 Images

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Electroretinography 2

Rod and cone PDF

3 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Myh10 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Myh10 (0 diseases)
Human diseases predicted to be associated with Myh10 (2914 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Myh10 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian)	Enlarged sylvian cistern, Perisylvian polymicrogyria	OMIM:615752
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia	OMIM:226735
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly...	OMIM:607432
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation	OMIM:123155
Hernia, Anterior Diaphragmatic	Congenital diaphragmatic hernia	OMIM:306950
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h...	OMIM:604213
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:615938
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe...	OMIM:220200
Genitopalatocardiac Syndrome	Ventricular septal defect, Micrognathia, Cleft upper lip, Cleft palate, Right aortic arch, Transp...	OMIM:231060
Ethanolaminosis	Cardiomegaly	OMIM:227150
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly	ORPHA:1084
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Hypoplasia of the pons, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hypoplasia, Perive...	OMIM:618677
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Abnormal cerebellum morphology, Simplified gyral pattern, Ventriculomegaly	ORPHA:329228
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:615937
Cortical Dysplasia, Complex, With Other Brain Malformations 5	Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Simplified gyral pattern, Ventriculome...	OMIM:615763
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Type II lissencephaly, Cerebellar dysplasia	OMIM:615041
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Abnormality of orbicularis oris muscle, Cleft upper lip, D...	ORPHA:401942
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Periventricular laminar heterotopia, Agyria, Spastic tetrap...	OMIM:611603
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Microlissencephaly	Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter...	ORPHA:1083
Porencephaly	Ventriculomegaly	ORPHA:2940
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Microcephaly 19, Primary, Autosomal Recessive	Extra-axial cerebrospinal fluid accumulation, Simplified gyral pattern, Ventriculomegaly	OMIM:617800
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Inability to walk, Spastic paraplegia, Optic atrophy, Cerebellar hypoplasia, Periventricular nodu...	OMIM:618572
Polymicrogyria, Bilateral Temporooccipital	Polymicrogyria, Ventriculomegaly	OMIM:612691
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:171703
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Cerebral Palsy, Spastic Quadriplegic, 2	Ventriculomegaly	OMIM:612900
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebellar atrophy, Hypoplasia of the brainstem, Lissencephaly, Pachygyria, Polymicrogyria, Ventr...	OMIM:618730
Omphalocele	Omphalocele	ORPHA:660
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent...	OMIM:619371
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis	OMIM:605388
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Periventricular Nodular Heterotopia 8	Spasticity, Periventricular nodular heterotopia, Cerebellar vermis atrophy	OMIM:618185
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly	OMIM:618709
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Autosomal Recessive Spastic Paraplegia Type 32	Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A...	ORPHA:171622
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus ...	OMIM:614019
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology	ORPHA:2703
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte...	OMIM:313850
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Death in infancy, Facial palsy, Left ventricular noncompaction cardiomyopathy, Left...	OMIM:619424
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor...	ORPHA:101010
Spinocerebellar Ataxia Type 5	Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance	ORPHA:98766
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Hypoplasi...	ORPHA:352682
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Abnormal brainstem morpho...	ORPHA:300573
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Spastic Paraplegia 88, Autosomal Dominant	Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Cerebellar hypoplasia, Ventriculomegaly	OMIM:620106
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Spinocerebellar Ataxia 45	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:617769
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca...	OMIM:615268
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Spinocerebellar Ataxia Type 30	Limb ataxia, Cerebellar vermis atrophy, Gait ataxia	ORPHA:211017
Pierre Robin Syndrome	Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis	OMIM:261800
8p23.1 deletion syndrome	Congenital diaphragmatic hernia	DECIPHER:39
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ...	OMIM:619742
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Hydrocephaly-Cerebellar Agenesis Syndrome	Ataxia, Cerebellar agenesis	ORPHA:1397
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong...	OMIM:614473
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ...	OMIM:617018
Olivopontocerebellar Atrophy-Deafness Syndrome	Ataxia, Optic atrophy, Hypertonia, Olivopontocerebellar atrophy, Ventriculomegaly	ORPHA:2732
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:1538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Type II lissencephaly	OMIM:614830
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Limb Body Wall Complex	Congenital diaphragmatic hernia, Abnormality of the liver, Cutaneous finger syndactyly, Aplasia o...	ORPHA:2369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ...	OMIM:613154
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Spinocerebellar Ataxia, Autosomal Recessive 24	Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi...	ORPHA:2476
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Ventricular septal defect, Orofacial cleft	ORPHA:3434
Cardiomyopathy, Dilated, 1B	Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con...	OMIM:600884
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Torticollis, Ataxia, Babinski sign, Increased CSF lactate, Choreoatheto...	OMIM:619054
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking	ORPHA:423296
Fetal Encasement Syndrome	Omphalocele, Congenital diaphragmatic hernia	OMIM:613630
Nephrosialidosis	Pericardial effusion, Ascites, Bone-marrow foam cells	OMIM:256150
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age...	OMIM:615771
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Right atrial enlargement, Reduced left ventr...	OMIM:612422
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Inability to walk, Ataxia	OMIM:619333
Phenobarbital Embryopathy	Mandibular prognathia, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Abnormal mitral valve...	ORPHA:1919
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,...	OMIM:611615
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Ataxia, Simplified gyral pattern, Ventriculomegaly	OMIM:613402
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ...	OMIM:213200
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia of the brainstem	OMIM:618266
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure, Death in infancy	OMIM:212080
Joubert Syndrome 13	Pachygyria, Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Constricting Bands, Congenital	Omphalocele, Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Abnormal rib cage morpholo...	OMIM:217100
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration, Ventriculomegaly	ORPHA:1980
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric...	ORPHA:75249
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Periventricular heterotopia, Inability to walk, Unsteady gait, Simp...	OMIM:618273
Cardiomyopathy, Familial Restrictive, 1	Sudden cardiac death, Restrictive cardiomyopathy, Ventriculomegaly	OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Overriding aorta, Micrognathia, Patent ductus arteriosus, High palate, ...	ORPHA:3304
Isolated Anencephaly	Omphalocele, Congenital diaphragmatic hernia	ORPHA:563609
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph...	ORPHA:1041
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid...	OMIM:614831
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Ceroid Lipofuscinosis, Neuronal, 11	Cerebellar atrophy, Optic atrophy, Ataxia	OMIM:614706
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gai...	OMIM:614322
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,...	OMIM:160500
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor...	OMIM:618876
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	OMIM:619501
Holzgreve Syndrome	Hypoplastic left heart, Cleft palate, Cleft upper lip	OMIM:236110
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Pachygyria, Gray matter heterotopia, Facial diplegia, Tip-toe gait, Difficult...	ORPHA:370980
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia	OMIM:614100
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Diprosopus	Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate	ORPHA:1681
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Cerebellar atrophy, Optic atrophy, Slurred speech, Gait ataxia, Ventriculomegaly	OMIM:619323
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Micrognathia, Cleft upper lip, Short thumb, P...	OMIM:612561
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Cutis Laxa-Marfanoid Syndrome	Flexion contracture, Congenital diaphragmatic hernia	ORPHA:171719
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar dysplasia, Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hyp...	OMIM:613153
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H...	OMIM:617967
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Spastic paraplegia, Subcort...	OMIM:615191
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Cerebellar atrophy, Lower limb spasticity, Ataxia, Hypertonia, Upper limb spasticity, Ventriculom...	OMIM:613925
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract...	OMIM:614096
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus...	OMIM:619903
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hernia, Pectus excavatum,...	ORPHA:2847
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia...	OMIM:607458
Nescav Syndrome	Cerebellar atrophy, Appendicular spasticity, Peripheral axonal neuropathy, Ataxia, Inability to w...	OMIM:614255
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Cleft palate, Abnormal heart morphology, Atypical scarrin...	ORPHA:294975
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly	ORPHA:1568
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Polymicrogyria, Agenesis o...	ORPHA:250972
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb...	OMIM:616053
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Spinocerebellar Ataxia 38	Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar ver...	OMIM:615957
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Ataxia, Inability to walk, Hydrocephalus, Optic atrophy, Spastic tetraplegia, Hypertonia, Cerebel...	OMIM:618174
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia	OMIM:601163
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde...	ORPHA:34515
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia	ORPHA:99811
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Cleft palate, Tooth agenesis, Abnorma...	ORPHA:1166
Spinocerebellar Ataxia, Autosomal Recessive 25	Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia	OMIM:617584
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly	OMIM:619170
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Babinski sign, S...	OMIM:610357
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Congenital diaphragmatic hernia	ORPHA:2141
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Spastic tetraplegia, Simplified gyral pat...	OMIM:619302
Spastic Ataxia-Corneal Dystrophy Syndrome	Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Optic atrophy, Gait disturbance, Aplasia/Hypoplas...	ORPHA:2572
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Abnormal jug...	ORPHA:1677
Moyamoya Disease	Ventriculomegaly, Telangiectasia	ORPHA:2573
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Smooth philtrum, Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular s...	ORPHA:477817
Brain Small Vessel Disease 2	Intracranial hemorrhage, Subcortical heterotopia, Polymicrogyria, Ventriculomegaly	OMIM:614483
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadoc...	OMIM:224050
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Congenital Diaphragmatic Hernia	Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia	ORPHA:2140
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturn...	ORPHA:1110
Autosomal Recessive Amelia	Micrognathia, Non-midline cleft lip, Orofacial cleft, Abnormal cardiac septum morphology, Amelia ...	ORPHA:1027
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat...	OMIM:619048
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Chor...	OMIM:615219
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ...	OMIM:601357
Alexander Disease	Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Abnormal dentate nucleus morphology,...	OMIM:203450
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Microphthalmia-Brain Atrophy Syndrome	Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar vermis atrophy, Atrophy/Degene...	ORPHA:77299
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ...	OMIM:601927
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Nemaline Myopathy 9	Ventricular septal defect, Micrognathia, Cleft palate, High palate, Arthrogryposis multiplex cong...	OMIM:615731
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology...	ORPHA:860
Dpm3-Cdg	Dilated cardiomyopathy, Stroke-like episode, Calf muscle hypertrophy, Muscular dystrophy, Pelvic ...	ORPHA:263494
Spinocerebellar Ataxia, Autosomal Recessive 33	Dilated fourth ventricle, Broad-based gait, Head titubation, Simplified gyral pattern, Gait ataxi...	OMIM:620208
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc...	OMIM:300718
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Cerebellar malformation, Ventricul...	ORPHA:324416
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Cerebellar atrophy, Optic atrophy, Truncal ataxia	OMIM:611726
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l...	OMIM:615524
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Partial agenesis of the corpus callosum,...	OMIM:610031
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissencephaly, Cerebe...	ORPHA:1528
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Pachygyria	OMIM:614870
Kagami-Ogata Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Long clavicles, Ventricular septal defect, Diastasis ...	OMIM:608149
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Abnormality of the dentition, ...	OMIM:179613
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Progressive cerebellar ataxia, Torticollis	OMIM:611694
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign, Sensory axonal ne...	OMIM:617770
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle...	OMIM:612937
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A...	OMIM:614702
Microcephaly 5, Primary, Autosomal Recessive	Simplified gyral pattern, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	OMIM:608716
Intellectual Developmental Disorder, Autosomal Recessive 69	Spasticity, Ataxia, Cerebellar hypoplasia, Ventriculomegaly	OMIM:618383
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Encephalocele, Ventricular septal defect,...	ORPHA:1908
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Ataxia, Impaired pain sensation, Abnormal cerebellum morphology, Hy...	ORPHA:1532
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Abn...	ORPHA:99104
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia	OMIM:615705
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Lower limb spasticity, Optic disc pallor, Peripheral axonal neuropathy, Ataxi...	OMIM:619389
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculomegaly	ORPHA:2185
Acalvaria	Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl...	ORPHA:945
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Thoracic sco...	OMIM:255160
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Loss of ambulation, Ataxia, Myoclonus	OMIM:600143
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:261102
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Omphalocele, Ventricular septal defect, Abnormal pericardium m...	ORPHA:1335
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Thomas Syndrome	Hypoplastic left heart, Cleft palate, Cleft upper lip	ORPHA:3316
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr...	OMIM:614672
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Long philtrum, Atrial septa...	OMIM:300887
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Congenital diaphragmatic hernia, Polyhydramnios, Metaphyseal widening, Flexion contr...	OMIM:263210
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st...	ORPHA:2414
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor	OMIM:608029
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,...	ORPHA:1170
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Optic atrophy, ...	OMIM:605259
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Retinal dystrophy, Cardiac arrest, Anorexia, Congestive heart failure,...	ORPHA:49827
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, P...	ORPHA:93267
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Parachute mitral valve, Short philtrum, Atrial septal defect, Pulmonary artery a...	OMIM:618316
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103
Atypical Teratoid Rhabdoid Tumor	Hemiplegia/hemiparesis, Hydrocephalus, Cerebral palsy, Ataxia	ORPHA:99966
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe...	OMIM:300580
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:617090
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Pr...	ORPHA:1120
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation, Simplified gyral pattern	OMIM:617668
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Corpus Callosum, Partial Agenesis Of, X-Linked	Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum, Spasticity, Cerebe...	OMIM:304100
Coffin-Siris Syndrome 3	Inguinal hernia, Central diaphragmatic hernia, Short distal phalanx of the 5th finger, Cleft pala...	OMIM:614608
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot...	OMIM:615960
Masa Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2466
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Micrognathia, Missing ribs, Hydrocephalus, Double outlet right ventric...	OMIM:220210
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Spinal muscular atrophy, type I, with congenital bone fractures	Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Pectus exc...	OMIM:271225
Adams-Oliver Syndrome 4	Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ...	OMIM:615297
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ...	ORPHA:276193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar h...	OMIM:615181
Multiple Mitochondrial Dysfunctions Syndrome 5	Pachygyria, Ventriculomegaly	OMIM:617613
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Joubert Syndrome 30	Cerebellar atrophy, Ventriculomegaly, Gray matter heterotopia, Molar tooth sign on MRI, Superior ...	OMIM:617622
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus	OMIM:616187
Fried Syndrome	Abnormal cerebellum morphology, Hydrocephalus, Gait disturbance, Spastic diplegia	ORPHA:85335
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum, Simplified gy...	OMIM:619244
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Hypoplasia of the brainstem, Cerebellar hypoplasia, Ventriculomegaly	OMIM:616486
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Lateral ventricle dilatation	OMIM:615889
Triploidy	Omphalocele, Hepatomegaly, Finger syndactyly, Intestinal malrotation, Polyhydramnios, Abnormality...	ORPHA:3376
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Lateral v...	OMIM:608629
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Pectus excavatum, Splenomegaly, Faci...	OMIM:616843
Bonnemann-Meinecke-Reich Syndrome	Decreased response to growth hormone stimulation test, Ventriculomegaly	ORPHA:1261
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu...	OMIM:616827
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus...	OMIM:609200
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Facial palsy, Inability to walk, Hydrocephalus, Cardiomyopathy, Cer...	OMIM:613155
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme...	ORPHA:251347
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
Lissencephaly, X-Linked, 1	Ataxia, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callos...	OMIM:300067
Glycogen Storage Disease 0, Muscle	Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu...	OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Sonoda Syndrome	Ventricular septal defect, Narrow mouth	OMIM:270460
Trisomy 1Q	Omphalocele, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Congenital diaph...	ORPHA:261344
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ...	ORPHA:97214
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, High palate, Atrial septal defect, Clinodactyl...	OMIM:201000
Fibrochondrogenesis 1	Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent...	OMIM:228520
Ehlers-Danlos Syndrome, Periodontal Type, 2	Prominent superficial veins, Inguinal hernia, Atypical scarring of skin, Umbilical hernia, Colon ...	OMIM:617174
14Q11.2 Microdeletion Syndrome	Ventricular septal defect, Exaggerated cupid's bow, Micrognathia, Deep philtrum, Patent ductus ar...	ORPHA:261120
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata...	OMIM:616204
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal...	OMIM:619806
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we...	ORPHA:171442
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Cerebellar hypoplasia, Ventriculomegaly...	OMIM:616531
Lethal Congenital Contracture Syndrome 10	Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Thora...	OMIM:617022
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Aganglion...	ORPHA:171680
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Abnormal thorax morphology, G...	OMIM:269920
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine...	ORPHA:423275
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor...	ORPHA:2041
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplif...	OMIM:616212
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M...	ORPHA:555877
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary centr...	OMIM:608227
Emanuel Syndrome	Torticollis, Inguinal hernia, Dental crowding, Intestinal malrotation, Congenital diaphragmatic h...	OMIM:609029
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio...	OMIM:302500
Spastic Paraplegia 85, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Torticollis, Lower limb spasticity, Peripheral ...	OMIM:619686
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal ...	OMIM:618387
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2512
Mosaic Trisomy 1	Thoracic scoliosis, Congenital diaphragmatic hernia, Polyhydramnios, Orofacial cleft, Finger clin...	ORPHA:1692
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Acrocallosal Syndrome	Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:36
Arterial Tortuosity Syndrome	Carotid artery dissection, Congenital diaphragmatic hernia, Flexion contracture, Pectus carinatum...	OMIM:208050
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Flexion contracture, Simplified gyral pattern, Bradycardia, Hypertrophic ...	OMIM:618815
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca...	OMIM:618736
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a...	OMIM:613728
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly	OMIM:616540
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Non-Syndromic Metopic Craniosynostosis	Omphalocele	ORPHA:3366
Fetal Minoxidil Syndrome	Umbilical hernia, Ventricular septal defect, Micrognathia	ORPHA:1918
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Periventricular heterotopia, Hypoplasia of the pons, Parti...	OMIM:616171
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios	ORPHA:1909
Endocardial Fibroelastosis	Sandal gap, Congestive heart failure, Endocardial fibroelastosis, Restrictive cardiomyopathy, Abn...	ORPHA:2022
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Short-Rib Thoracic Dysplasia 12	Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Thoracic dysplasia, Narrow chest, Sh...	OMIM:269860
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Hypoplasia ...	OMIM:617751
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Frontal polymicrogyria, Broad-based gait, Hypoplasia of the pons, Babinski sign, Perisylvian poly...	OMIM:606854
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent...	OMIM:618845
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Mogs-Cdg	Hepatomegaly, Atrial septal defect, Thoracic scoliosis, Pulmonary edema, Edema, Cardiomegaly, Pol...	ORPHA:79330
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Spastic tetraplegia, Spa...	OMIM:617207
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Peripheral axonal neuropathy, A...	OMIM:617225
Developmental And Epileptic Encephalopathy 97	Ventriculomegaly	OMIM:619561
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Idiopathic Congenital Hypothyroidism	Facial edema, Delayed proximal femoral epiphyseal ossification, Macroglossia, Bradycardia, Abnorm...	ORPHA:95717
Isolated Dandy-Walker Malformation	Encephalocele, Tetralogy of Fallot, Cleft palate	ORPHA:217
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent...	OMIM:615386
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly	ORPHA:3207
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Edema, Malabsorption, Pulmonary embolism, Clubbing, Clubbin...	OMIM:226300
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Abnormal clavicle morphology, Sandal gap, Camptodactyly ...	ORPHA:1520
Maternally-Inherited Diabetes And Deafness	Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Arrhythmia, Macular dy...	ORPHA:225
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Emanuel Syndrome	Multiple joint contractures, Dental crowding, Congenital hip dislocation, Congenital diaphragmati...	ORPHA:96170
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Pigmentary retinopathy, M...	OMIM:618234
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ata...	OMIM:616230
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Abnormal cerebral vascular morphology...	ORPHA:363705
Pontocerebellar Hypoplasia, Type 1A	Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia of the ve...	OMIM:607596
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Impaired vibratory sensation, Decreased motor nerve conduction velocity, Decr...	OMIM:607250
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal...	ORPHA:254534
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h...	ORPHA:324604
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal...	ORPHA:63260
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot...	OMIM:615362
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele	OMIM:258320
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Intestinal pseudo-obstruction, Bi...	OMIM:616201
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy...	ORPHA:272
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomyopathy, Hypoplastic spleen,...	OMIM:619313
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet...	OMIM:616127
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Congenital diaphragmatic hernia, Proximal placement of thumb, Tapered finge...	ORPHA:251071
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Congestiv...	ORPHA:615
Joubert Syndrome 24	Ataxia, Dysmetria, Gait disturbance, Cerebellar hypoplasia, Spasticity, Pachygyria, Polymicrogyria	OMIM:616654
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E...	OMIM:616898
Scimitar Syndrome	Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Sing...	ORPHA:185
Sialidosis Type 2	Skeletal muscle atrophy, Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Short ...	ORPHA:87876
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Spinocereb...	OMIM:164400
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Hydrocephalus	ORPHA:83473
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Gray matter heterotopia, Lateral ventricle dilatation, Bradycardia, Cerebell...	OMIM:617397
Dentatorubral-Pallidoluysian Atrophy	Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus	OMIM:125370
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Everted lower lip vermilion, Pu...	OMIM:249670
Cantu Syndrome	Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga...	OMIM:239850
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ...	ORPHA:85451
Spinocerebellar Ataxia 12	Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, H...	OMIM:604326
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Combined Oxidative Phosphorylation Deficiency 17	Death in infancy, Hypertrophic cardiomyopathy, Congestive heart failure, Death in childhood	OMIM:615440
Spinocerebellar Ataxia 2	Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,...	OMIM:183090
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Cong...	ORPHA:2311
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Difficulty walking	OMIM:619425
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Macroglossia, Umbilical hernia	OMIM:275100
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Subdural hemorrhage, Lateral ventricle ...	OMIM:618291
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hy...	OMIM:600001
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr...	OMIM:616276
Tetraamelia Syndrome 2	Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Micrognathia, Hypoplastic pulm...	OMIM:618021
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, P...	ORPHA:1263
Frontonasal Dysplasia 1	Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Anterior basal encephal...	OMIM:136760
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous return, Right aort...	OMIM:617478
Hyperekplexia 4	Inguinal hernia, Flexion contracture, Distal arthrogryposis, High palate, Camptodactyly, Umbilica...	OMIM:618011
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema	OMIM:608776
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Lissencephaly 8	Occipital encephalocele, Type II lissencephaly, Retrocerebellar cyst, Hypoplasia of the brainstem...	OMIM:617255
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Nonimmune hydrops fetalis, ...	ORPHA:367
15Q24 Microdeletion Syndrome	Brachydactyly, Congenital diaphragmatic hernia, Abnormality of the dentition, Proximal placement ...	ORPHA:94065
Burn-Mckeown Syndrome	Mandibular prognathia, Ventricular septal defect, Micrognathia, Cleft upper lip, Cleft palate, Th...	OMIM:608572
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Focal Dermal Hypoplasia	Acute hepatic failure, Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal denta...	ORPHA:2092
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Babinski sign, ...	OMIM:616680
Schisis Association	Omphalocele, Congenital diaphragmatic hernia	ORPHA:63862
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Clonus, ...	ORPHA:370959
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Pyruvate Dehydrogenase E1-Alpha Deficiency	Partial agenesis of the corpus callosum, Cerebellar gliosis, Increased CSF lactate, Lateral ventr...	ORPHA:79243
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Proximal pla...	ORPHA:1488
Mulibrey Nanism	Hepatomegaly, Dental crowding, Cardiomegaly, Thickened cortex of long bones, Congestive heart fai...	OMIM:253250
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py...	ORPHA:101070
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransp...	OMIM:306955
Vacterl/Vater Association	Omphalocele, Occipital encephalocele, Finger syndactyly, Congenital diaphragmatic hernia, Polyhyd...	ORPHA:887
Spastic Paraplegia, Ataxia, And Mental Retardation	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati...	OMIM:607565
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Congenital diaphragmatic hernia	ORPHA:380
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ...	ORPHA:99947
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Pulmonic stenosis, Attention deficit hyperactivity diso...	OMIM:618205
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Hydrocephalus, Cardiomegaly	OMIM:300886
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy...	OMIM:220220
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Ventriculomegaly	ORPHA:500166
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady...	OMIM:617633
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Tooth agenesis, Mesomelia, Abnormal mitral valve morphology, Abnormal palate morpho...	ORPHA:1277
Mast Syndrome	Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokine...	OMIM:248900
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Cleft palate, Hydranencephaly, Truncus arteriosus, Short distal phalan...	OMIM:601355
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Lissencephaly, Simplified gyral pattern	ORPHA:284417
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Velopharyngeal insufficiency, Abnormal heart morphology, Downtur...	OMIM:300978
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Agenesis of cerebellar vermis, Situs inversus totalis, Cerebellar hypoplasia, Atrial septal defec...	OMIM:601322
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist...	ORPHA:90308
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Incoordination, Ataxia, Clonus, Hydrocephalus, Optic atrophy, Tetraplegia, In...	OMIM:616034
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig...	ORPHA:101029
Joubert Syndrome 31	Molar tooth sign on MRI, Ventriculomegaly	OMIM:617761
Catel-Manzke Syndrome	Ventricular septal defect, Camptodactyly of finger, Micrognathia, Cleft palate, Glossoptosis, Atr...	ORPHA:1388
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Palatal tremor	ORPHA:363717
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Spastic tetraparesis, Tremor, Hydrocephalus, Optic atrophy, Simplified gyral pa...	OMIM:619470
Bowen-Conradi Syndrome	Ventriculomegaly	ORPHA:1270
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short palm, Inguinal hernia, Finger syndactyly, Camptodactyly of finge...	ORPHA:915
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Glutamine Deficiency, Congenital	Subependymal cysts, Lateral ventricle dilatation, Bradycardia, Neonatal death, Decreased CSF glut...	OMIM:610015
Leber Congenital Amaurosis	Encephalocele, Aplasia/Hypoplasia of the cerebellar vermis, Hemiplegia/hemiparesis, Abnormality o...	ORPHA:65
Timothy Syndrome	Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Patent ...	OMIM:601005
Chromosome 9P Deletion Syndrome	High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Long toe, Tapered finger, ...	OMIM:158170
Distal Duplication 15Q	Omphalocele, Congenital muscular torticollis, Arachnodactyly, Camptodactyly of finger, Pectus exc...	ORPHA:1707
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Adams-Oliver Syndrome 2	Hydrocephalus, Retrocerebellar cyst, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymic...	OMIM:614219
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Pseudodiastrophic Dysplasia	Omphalocele	ORPHA:85174
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Arr...	OMIM:602390
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle	OMIM:619725
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Posterior rib fusion, At...	OMIM:265380
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Non-midline cleft lip, Abnormal mesentery morphology, Abnormalit...	ORPHA:2075
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Babinski sign, Abnormal pyramida...	ORPHA:363429
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ...	OMIM:610185
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Death in infancy, Patent ductus arteriosus, Cholestasis, Perimembranous ventricular...	OMIM:608104
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,...	OMIM:618090
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum	OMIM:617296
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Abnormal dentate nucleus m...	OMIM:619517
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Simplified gyral ...	OMIM:615574
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu...	OMIM:619534
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Abnormal cortical...	ORPHA:98756
C Syndrome	Omphalocele, Hepatomegaly, Short metacarpal, Toe syndactyly, Ventricular septal defect, Fused ste...	OMIM:211750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Hypoplasia of the pons, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar cyst	OMIM:613151
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Gray ma...	OMIM:207950
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat...	OMIM:613313
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Postaxial polydactyly, H...	OMIM:617895
Spinocerebellar Ataxia 14	Cerebellar atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Impaired vibration sen...	OMIM:605361
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingival overgrowth, Mitral ...	ORPHA:137834
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Skeletal muscle atrophy, Agyria, Hydrocephalus, Dilated cardiomyopathy, Flexion co...	OMIM:253800
Fryns Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Polyhydramnios, Abnormal aortic arch...	ORPHA:2059
Cach Syndrome	Cerebellar atrophy, T2 hypointense thalamus, Lateral ventricle dilatation, Abnormal pons morpholo...	ORPHA:135
Serkal Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial...	ORPHA:139466
Congenital Enterovirus Infection	Abnormal bleeding, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops feta...	ORPHA:292
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Stroke-like e...	OMIM:540000
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Second degre...	OMIM:617021
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ventriculomegaly, Ataxia, Rigidity, Chorea, Gait ataxia, Br...	ORPHA:248111
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Complete atrioventricular cana...	OMIM:619142
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia	ORPHA:324588
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart fail...	ORPHA:1194
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
8P23.1 Duplication Syndrome	Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, Tetralogy of...	ORPHA:251076
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki...	ORPHA:512260
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper...	OMIM:618775
Chromosome 15Q25 Deletion Syndrome	Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital ...	OMIM:614294
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,...	OMIM:600987
Meckel Syndrome, Type 8	Pericardial effusion, Occipital encephalocele, Encephalocele	OMIM:613885
Congenital Sialidosis Type 2	Hepatomegaly, Abnormal EKG, Inguinal hernia, Edema, Protruding tongue, Gingival overgrowth, Telan...	ORPHA:93400
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Abnormal cerebe...	ORPHA:397715
Donnai-Barrow Syndrome	Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ...	ORPHA:2143
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh...	ORPHA:1345
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe...	ORPHA:98
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Brachydactyly, Bicuspid aortic valve, Cleft soft palate, Broad hallu...	OMIM:618529
1Q21.1 Microduplication Syndrome	Arthrogryposis multiplex congenita, Hydrocephalus, Tetralogy of Fallot	ORPHA:250994
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, T...	ORPHA:2872
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Polyhydramnios, Endocardial fibroelastosis	OMIM:600559
Melnick-Needles Syndrome	Delayed eruption of teeth, Omphalocele, Bowing of the long bones, Coxa valga, Short thorax, Abnor...	ORPHA:2484
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art...	OMIM:161800
Peho-Like Syndrome	Cerebellar atrophy, Lissencephaly, Pachygyria, Polymicrogyria, Ventriculomegaly	OMIM:617507
Lujo Hemorrhagic Fever	Shock, Elevated hepatic transaminase, Purpura, Increased circulating lactate dehydrogenase concen...	ORPHA:319213
Craniosynostosis 6	Cerebellar atrophy, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callos...	OMIM:616602
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Lo...	OMIM:256731
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Dysgyria, Pa...	ORPHA:467166
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer...	OMIM:607346
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	OMIM:616570
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Thoracic...	OMIM:600325
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Thoracic scoliosis, Elevated circulating aspartate aminotransferase concentration, ...	OMIM:606056
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Abnormal heart morphology, Congenital contracture, Umbilical hernia, Short philt...	ORPHA:352490
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a...	OMIM:616866
Miller-Dieker Syndrome	Omphalocele, Abnormal upper lip morphology, Clinodactyly of the 5th finger, Polyhydramnios	ORPHA:531
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Peripheral axonal neuropathy, Optic atrophy, Limb ataxia, Dysmetria, Gait ata...	OMIM:610743
Null Syndrome	Ataxia, Decreased nerve conduction velocity, Inability to walk, Abnormal cerebellum morphology, O...	ORPHA:280234
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, Neonatal death, Wea...	OMIM:620265
Spinocerebellar Ataxia 4	Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb...	OMIM:600223
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer...	OMIM:610198
Fetal Valproate Spectrum Disorder	Omphalocele	ORPHA:1906
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Rectal prolapse, Pectus carinatum, High palate, Widely s...	OMIM:303600
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Hernia, ...	ORPHA:2255
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Inguinal hernia, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber mo...	OMIM:175700
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Leukoencephalopathy With Vanishing White Matter 4	Ventriculomegaly	OMIM:620314
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,...	ORPHA:90117
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Hernia, Double Inguinal	Inguinal hernia	OMIM:142350
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic aneury...	OMIM:620070
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness, Rod-con...	OMIM:266500
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem	OMIM:617862
Hypertelorism, Microtia, Facial Clefting Syndrome	Micrognathia, Cleft upper lip, Cleft palate, Abnormal heart morphology, Small thenar eminence, Sh...	OMIM:239800
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, Aortic regurgitation	OMIM:600721
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:85179
Mitochondrial Complex I Deficiency, Nuclear Type 19	Cerebellar atrophy, Rigidity, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Myoc...	OMIM:618241
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Hydrocephalus, Conotruncal defect, Micrognathia	OMIM:243440
Machado-Joseph Disease	Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,...	OMIM:109150
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Los...	OMIM:618088
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Congenital Disorder Of Glycosylation, Type Iiy	Agenesis of corpus callosum, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem	OMIM:620200
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Double Outlet Right Ventricle	Ventricular septal defect, Submucous cleft hard palate, Double outlet right ventricle, Cleft pala...	ORPHA:3426
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Supraventricular arrhythmia, Abnormal cerebellum morphology, Cardiomyopathy, Leg muscle stiffness...	ORPHA:320360
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Cleft palate, Cleft upper lip	OMIM:214300
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t...	ORPHA:94066
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Patent ductus arteriosus, Alveolar ridge overgrowth...	OMIM:612938
Zaki Syndrome	Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Patent ductus arteriosus, Wide mou...	OMIM:619648
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Widened atrophic scar, Thoracic scoliosis, High, narrow palate, Wrist drop...	ORPHA:1900
Pseudoxanthoma Elasticum	Accelerated atherosclerosis, Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pe...	OMIM:264800
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Periventricular Nodular Heterotopia 1	Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of neuronal mig...	OMIM:300049
Gm1-Gangliosidosis, Type I	Hepatomegaly, Inguinal hernia, Thickened ribs, Abnormal heart valve morphology, Congestive heart ...	OMIM:230500
Sandhoff Disease	Splenomegaly, Cherry red spot of the macula, Congestive heart failure, Hepatomegaly	ORPHA:796
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Babinski sign, Abnormality of neuronal migration, Cerebellar hypoplasia, Pachygyria	OMIM:608840
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Butyrylcholinesterase Deficiency	Congestive heart failure, Abnormality of the liver, Abnormal circulating enzyme concentration or ...	ORPHA:132
Spinocerebellar Ataxia 27B, Late-Onset	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Babinski sign, Optic atrophy, Dysmetria, Gait ...	OMIM:210000
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig...	OMIM:620158
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Missing ribs, Abnormality of the spleen, Abnormal r...	ORPHA:1834
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard...	OMIM:618280
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di...	ORPHA:98764
3-Methylglutaconic Aciduria, Type Iv	Biventricular hypertrophy, Subvalvular aortic stenosis, Cerebellar dysplasia	OMIM:250951
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Facial palsy, Dilated cardiomyopathy, Ragged-red muscle fibers, Proximal amyo...	OMIM:615084
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural...	ORPHA:330001
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Stroke-like episode, Abnormal heart morphology, Increased CSF lactate, ...	ORPHA:70472
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai...	OMIM:117360
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Cardiac arrest, Rhabdomyoly...	OMIM:212138
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn...	ORPHA:563
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges...	OMIM:212140
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Microphthalmia, Syndromic 9	Inguinal hernia, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, ...	OMIM:601186
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Ventriculomegaly, Telangiectases producing 'marbled' skin	OMIM:206570
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:352403
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Pectus carinatum, Shoulder ...	OMIM:245600
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb...	ORPHA:208513
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Crowded maxillary incisors, Abnormal femur morp...	ORPHA:2063
Achondrogenesis, Type Ib	Inguinal hernia, Edema, Polyhydramnios, Hypoplastic ilia, Hydrops fetalis, Stillbirth, Short ribs...	OMIM:600972
Spinocerebellar Ataxia 5	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme...	OMIM:600224
Transient Neonatal Diabetes Mellitus	Macroglossia, Umbilical hernia, Dehydration, Abnormal heart morphology	ORPHA:99886
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia	ORPHA:95706
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Patent ductus arteriosus, Short philtrum, Abnormal oral cavity morphology, Clinodactyly of the 5t...	ORPHA:1516
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar ...	OMIM:617810
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Sandal gap, Cong...	OMIM:612530
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, In...	OMIM:302800
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Dextrocardia, Pa...	ORPHA:2863
Maternal Uniparental Disomy Of Chromosome X	Predominantly lower limb lymphedema, Camptodactyly of finger, Rocker bottom foot, Congestive hear...	ORPHA:261519
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short...	OMIM:616145
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Abnormality of neuronal migration, Hypoplastic left heart, Aplasia/Hyp...	ORPHA:2772
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of the great arteri...	OMIM:617877
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal cerebellum morphology, Abnormal brainstem morphology, Increased CSF lactate, Abnormal CS...	ORPHA:255182
Lowry-Maclean Syndrome	Inguinal hernia, Delayed eruption of primary teeth, Congenital diaphragmatic hernia, High, narrow...	ORPHA:2409
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton...	ORPHA:137898
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pe...	ORPHA:199241
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Bicuspid aortic valve, Ventricular septal defect, Osteolysis involving bones of the ...	ORPHA:371428
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis, Prolonged QTc interval, Petechiae	ORPHA:231111
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Pleural e...	ORPHA:90362
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later...	OMIM:269250
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Neu-Laxova Syndrome 1	Polyhydramnios, Swollen lip, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Fing...	OMIM:256520
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Dias...	ORPHA:329224
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Tapered finger, Pectus excavatum, Small hand, 2-3 toe syndactyly...	ORPHA:284180
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated gamma-glutamyltransferase level, Atrial septal defe...	OMIM:619573
Colonic Atresia	Omphalocele, Abnormal mesentery morphology, Abdominal situs inversus, Gastroschisis	ORPHA:1198
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia	OMIM:143100
Orofaciodigital Syndrome Xvii	Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Retrognathia, Tetr...	OMIM:617926
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Hemangioblastoma	Dysesthesia, Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma	ORPHA:252054
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Increased CSF protein concentration, Ventriculomegaly	OMIM:611722
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Dental crowding, Thoracic scoliosis, ...	OMIM:620351
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic hernia, Polyhydramnios,...	ORPHA:373
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Cholestasis, Mitral valve prolapse, Pulmonary arterial hyp...	OMIM:620233
Jansen-De Vries Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Central diaphragmatic...	OMIM:617450
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist...	ORPHA:70591
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Muscle-Eye-Brain Disease	Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Optic atrophy, Hypertonia, Gait disturbance, ...	ORPHA:588
Familial Thyroid Dyshormonogenesis	Facial edema, Delayed proximal femoral epiphyseal ossification, Macroglossia, Bradycardia, Abnorm...	ORPHA:95716
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Anteriorly placed anus, Downturned corners of mouth, Pulmonary artery at...	OMIM:616894
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Spastic para...	OMIM:614877
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Lipoatrophy, Congestiv...	ORPHA:2348
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Hemimegalencephaly	Gray matter heterotopia, Pachygyria, Polymicrogyria, Ventriculomegaly	ORPHA:99802
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ...	OMIM:311300
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ...	ORPHA:40366
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Impaired vibratio...	OMIM:159550
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Abnormality of neuronal mig...	OMIM:300957
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ...	OMIM:616300
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Colpocephaly, Perimembranous...	OMIM:618651
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Tented upper lip vermilion, Dental crowding, Ventricular septal defect, Rocker bottom ...	OMIM:612582
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Omphalocele	OMIM:614450
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Long toe, Inguinal hernia, Exaggerated cupid's bow, Diastasis recti, Overlapping toe...	ORPHA:254528
Acquired Aneurysmal Subarachnoid Hemorrhage	Cerebral hemorrhage, Myocardial infarction, Congestive heart failure, Hydrocephalus, Hyperglycorr...	ORPHA:90065
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur...	OMIM:615959
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cleft lip, Miss...	ORPHA:3186
Ehlers-Danlos Syndrome, Classic-Like, 2	Ventral hernia, Hallux valgus, Prominent superficial veins, Inguinal hernia, Thoracic scoliosis, ...	OMIM:618000
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Protruding tongue, Cardiomegaly, Congestive heart failur...	ORPHA:324410
Poland Syndrome	Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy...	OMIM:173800
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Preeclampsia/Eclampsia 1	Hypertension, Edema, Intrauterine growth retardation	OMIM:189800
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular septal defe...	OMIM:617602
Nestor-Guillermo Progeria Syndrome	Prominent superficial veins, Left atrial enlargement, Flexion contracture, Right atrial enlargeme...	OMIM:614008
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:607487
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Thickened ribs, Splenomegaly, Asymmetric septal hypertrophy, Umbil...	OMIM:252900
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Dysphagia, Death in adolescence, Stillbirth, Camptodactyly, Neonatal de...	OMIM:619751
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P...	ORPHA:26793
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Cerebellar atrophy, Ataxia, CSF pleocytosis, Dysmetria, Increased CSF lactate	OMIM:618384
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatomegaly	OMIM:609016
Tetralogy Of Fallot	Thin vermilion border, Tetralogy of Fallot	ORPHA:3303
Desminopathy	Thoracic kyphoscoliosis, Supraventricular arrhythmia, Sudden cardiac death, Congestive heart fail...	ORPHA:98909
Malonyl-Coa Decarboxylase Deficiency	Pachygyria, Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Hydrocephalus, CSF lymphocytic pleiocytosis, Spasticity, Ventriculomegaly	OMIM:610333
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, J...	ORPHA:858
Ferguson-Bonni Neurodevelopmental Syndrome	Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Pectus excavatum, High palate...	OMIM:619699
Intellectual Disability, Wolff Type	Microretrognathia, Camptodactyly of finger, Non-midline cleft lip, Thick lower lip vermilion, Oro...	ORPHA:3080
Pagod Syndrome	Encephalocele, Omphalocele, Abnormal clavicle morphology, Sudden cardiac death, Congenital diaphr...	ORPHA:991
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Dilated third ventricle, Abnormal cerebrospinal fluid morphology, Atrophy/Deg...	ORPHA:314404
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Ap...	ORPHA:958
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of the dentition, Gingival overgrowth, Upper limb undergro...	OMIM:169400
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Inguinal hernia, Decreased iduronate sulfatase level, In...	OMIM:309900
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Pachygyria, Partial agenesis of the corpus callosum, ...	OMIM:304050
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, 4-layered lissencephaly, Patent foramen ovale, Abnormality of neuronal migrat...	ORPHA:89844
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta	OMIM:140850
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal te...	ORPHA:85446
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft, Fusion of the left and right thal...	OMIM:617542
Chromosome 10Q26 Deletion Syndrome	Omphalocele, Thin upper lip vermilion, Scapular winging, Congenital hip dislocation, Prominent fi...	OMIM:609625
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Hydrocephalus	OMIM:618302
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Polyhydramnios, Osteopathia striata, High palate, Atrial septal defect, Broad ri...	OMIM:300373
Charlie M Syndrome	Micrognathia, Non-midline cleft lip, Tooth agenesis, Thin vermilion border, Short philtrum, Narro...	ORPHA:1406
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Pyloric stenosis, Rib fusion, Cleft palate, Abnorm...	ORPHA:261197
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Macroglossia, Bradycardia, Abnormal epiphysis morphology, Prolon...	ORPHA:226313
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Cleft lip, Splenomegaly, Jaundice, Patent ductus art...	OMIM:251290
Short Stature And Facioauriculothoracic Malformations	High palate, Ventricular septal defect, Cleft palate, Cleft upper lip	OMIM:609654
Muscle Filaminopathy	Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A...	ORPHA:171445
Multicentric Carpotarsal Osteolysis Syndrome	Congenital diaphragmatic hernia, Hypertension, Osteolysis involving tarsal bones, Metatarsal oste...	OMIM:166300
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Jaundice, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Umbilical hernia	ORPHA:2349
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Macrocephaly, Acquired, With Impaired Intellectual Development	Agenesis of corpus callosum, Ventriculomegaly	OMIM:618286
Mungan Syndrome	Abnormality of the autonomic nervous system, Tricuspid regurgitation, Perimembranous ventricular ...	OMIM:611376
Beta-Mercaptolactate Cysteine Disulfiduria	Arachnodactyly, Sandal gap, Genu valgum, High palate, Atrial septal defect, Umbilical hernia	ORPHA:1035
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Umbilical hernia, Inguinal hernia, Accessory oral frenulum	ORPHA:1373
Glycosylphosphatidylinositol Biosynthesis Defect 11	Inguinal hernia, Tented upper lip vermilion, Macroglossia, Elevated circulating alkaline phosphat...	OMIM:616025
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Left-to-right shunt, Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart...	ORPHA:363444
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Narrow mouth, Br...	ORPHA:398156
Simpson-Golabi-Behmel Syndrome, Type 2	Ventriculomegaly	OMIM:300209
Giant Axonal Neuropathy 1, Autosomal Recessive	Abnormal cerebellum morphology, Lateral ventricle dilatation	OMIM:256850
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Cerebellar hypoplasia	ORPHA:401815
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom...	OMIM:255310
Achondrogenesis Type 1A	Multiple rib fractures, Femoral hernia, Polyhydramnios, Short thorax, Hydrops fetalis, Short foot...	ORPHA:93299
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Hb Bart'S Hydrops Fetalis	Pericarditis, Polyhydramnios, Congestive heart failure, Hydrocephalus, Hydrops fetalis, Oligohydr...	ORPHA:163596
Pontocerebellar Hypoplasia, Type 13	Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Dandy-Walker ...	OMIM:618606
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation	OMIM:615716
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Achondrogenesis Type 1B	Femoral hernia, Polyhydramnios, Short thorax, Abnormal rib morphology, Hydrops fetalis, Short foo...	ORPHA:93298
Orofacial Cleft 14	Median cleft lip	OMIM:615892
Noonan Syndrome 12	Ventricular septal defect, Polyhydramnios, Tetralogy of Fallot, Ventriculomegaly, Supravalvular a...	OMIM:618624
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Flexion contracture, Hydrops fetalis, Pectus carinatum, Widely spaced teeth, Narr...	OMIM:253220
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Spinocerebellar Ataxia 34	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G...	OMIM:133190
Disorganization, Mouse, Homolog Of	Cleft palate, Cleft upper lip	OMIM:223200
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Gait ataxia, Motor ...	ORPHA:139480
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Hitchhiker thumb, Dextrocardia, Spina bifida, Myelomeningoce...	ORPHA:2437
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Congenital dia...	OMIM:618454
Spinocerebellar Ataxia 28	Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a...	OMIM:610246
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function, Cerebellar hypoplasia	OMIM:618805
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Ventriculomegaly, C...	OMIM:618804
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, De...	OMIM:270550
Holoprosencephaly 13, X-Linked	Median cleft lip, Ventricular septal defect, Micrognathia, Alobar holoprosencephaly, Patent ductu...	OMIM:301043
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Widely spaced teeth, Thick up...	OMIM:619717
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the brainstem	ORPHA:420179
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ...	OMIM:309801
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Dandy-Walker ...	OMIM:225790
Vascular Malformation, Primary Intraosseous	Diastasis recti, Supraumbilical raphe, Elevated circulating alkaline phosphatase concentration, E...	OMIM:606893
Coach Syndrome 2	Cerebellar vermis hypoplasia, Hydrocephalus, Hypertension, Molar tooth sign on MRI, Agenesis of c...	OMIM:619111
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy	OMIM:620089
Machado-Joseph Disease Type 3	Cerebellar atrophy, Abnormal lower motor neuron morphology, Dilated fourth ventricle, Peripheral ...	ORPHA:276244
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Small vessel...	ORPHA:36412
Familial Scaphocephaly Syndrome, Mcgillivray Type	Ventriculomegaly	ORPHA:168624
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog...	ORPHA:98772
Retinitis Pigmentosa 89	Bicuspid aortic valve, Retinal thinning, Micronodular cirrhosis, Hepatosplenomegaly, Hyperautoflu...	OMIM:618955
Feingold Syndrome 2	Short middle phalanx of the 2nd finger, Short thumb, Ventricular septal defect, Short middle phal...	OMIM:614326
Microcephaly 27, Primary, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Simplified gyral pattern, Ventriculomegaly	OMIM:619180
Melnick-Needles Syndrome	Tibial bowing, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand, Short clavicles,...	OMIM:309350
Intellectual Developmental Disorder, Autosomal Dominant 43	Thin upper lip vermilion, Tapered finger, Gingival overgrowth, Hip dysplasia, High palate, Short ...	OMIM:616977
Polydactyly-Myopia Syndrome	Inguinal hernia, Femoral hernia	ORPHA:2917
Developmental And Epileptic Encephalopathy 36	Hepatomegaly, Hydrocephalus, Flexion contracture, Optic atrophy, Self-mutilation	OMIM:300884
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Deep philtrum, Wide mouth, Umbilical hernia, Short philtrum, Thick vermilion bor...	OMIM:615834
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
3Mc Syndrome 1	Conjunctival telangiectasia, Omphalocele, Dental crowding, Diastasis recti, Ventricular septal de...	OMIM:257920
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia	OMIM:618093
Distal Deletion 15Q	Bicuspid aortic valve, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Abnormal ao...	ORPHA:1596
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Arachnodactyly, High, narrow palate, Shoulder dislocation, Umbilical hernia...	ORPHA:2181
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg...	ORPHA:1517
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Micrognathia, Cleft upper lip, Abnormality of...	ORPHA:96167
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Polyhydramnios, Pectus carinatum, Narrow greater sciatic notch, ...	OMIM:312870
Chromosome 18Q Deletion Syndrome	Proximal placement of thumb, Downturned corners of mouth, Short philtrum, Atrial septal defect, B...	OMIM:601808
Cat Eye Syndrome	Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Absent radius, ...	OMIM:115470
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Generalized amyot...	ORPHA:352447
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, Narrow chest, A...	ORPHA:157973
Donnai-Barrow Syndrome	Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ...	OMIM:222448
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Skraban-Deardorff Syndrome	Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Right aortic arch, Wid...	OMIM:617616
Meckel Syndrome, Type 2	Omphalocele, Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly...	OMIM:603194
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Rapidly Involuting Congenital Hemangioma	Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Lipoat...	ORPHA:141184
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Atrial septal defect, Finger syndactyly, Ventricular septal defect, Pectus excavatum...	ORPHA:1519
Yuan-Harel-Lupski Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm,...	OMIM:616652
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98855
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Intestinal malrotation, Dextrocardia, Camptodactyly of finger, Missing ribs, Mening...	ORPHA:1759
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle, Abnormal cereb...	ORPHA:544488
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Synostosis of carpal b...	ORPHA:90652
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Periventricular heterotopia, Cerebellar hypoplasia, Pachygyria, Agenesis of corpus callos...	ORPHA:255138
Cutis Laxa, Autosomal Recessive, Type Ia	Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Pectus excavatum, Vascular tort...	OMIM:219100
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card...	ORPHA:261
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus, Bicuspid aortic valve	ORPHA:397951
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card...	ORPHA:98853
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar hypoplasia, Dandy-Walker malfo...	ORPHA:3078
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Hydrops fetali...	OMIM:265000
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Prominent veins on trunk, Shoulder ...	ORPHA:536532
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Edema, Pericardial effusion, Hydrocephalus, Camptodactyly, Arthrogryposis multi...	OMIM:617822
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa...	OMIM:619167
Gm1 Gangliosidosis	Hydrops fetalis, Decreased beta-galactosidase activity, Cherry red spot of the macula, Patent duc...	ORPHA:354
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly...	OMIM:235200
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Congenital diaphragmatic hernia, Abnormality of the dentition, Polyhydramnios...	ORPHA:363528
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Acroosteolysis of distal phalanges (feet), Precocious atherosclerosi...	ORPHA:280365
Maternal Phenylketonuria	Ventricular septal defect, Micrognathia, Abnormal heart morphology, Coarctation of aorta, Hypopla...	ORPHA:2209
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Abnormal lateral ventricle morphology, Cerebellar hypoplasia	ORPHA:488635
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Bowing of the legs, Quadriceps muscle weakne...	OMIM:255800
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Dysmetria, Titubat...	ORPHA:98771
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,...	ORPHA:229
Weyers Ulnar Ray/Oligodactyly Syndrome	Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radius, Hand oligodactyly, Cleft p...	OMIM:602418
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic par...	OMIM:614487
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation, Periventricular heterotopia	OMIM:614105
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
X-Linked Intellectual Disability, Siderius Type	Orofacial cleft, Cleft upper lip	ORPHA:85287
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ...	OMIM:603516
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Anencephaly 2	Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge	OMIM:619452
Hurler Syndrome	Metaphyseal widening, Flexion contracture, Hernia, Endocardial fibroelastosis, Microdontia, Hepat...	OMIM:607014
Myopathy With Extrapyramidal Signs	Peripheral axonal neuropathy, Ataxia, Clonus, Ventricular septal defect, Tremor, Chorea, Perisylv...	OMIM:615673
Macdermot-Winter Syndrome	Ventriculomegaly	OMIM:247990
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth	OMIM:276950
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Decreased muscle mass, Tented upper lip vermilion, Facial hypotonia, Polyhydramnios, Congestive h...	ORPHA:500533
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car...	OMIM:208000
Fetal Alcohol Syndrome	Thin upper lip vermilion, Atrial septal defect, Congenital diaphragmatic hernia, Non-midline clef...	ORPHA:1915
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Polymicrog...	ORPHA:370997
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ...	OMIM:607598
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation	OMIM:221770
Martsolf Syndrome 1	Thoracic scoliosis, Osteopathia striata, Pectus carinatum, High palate, Short philtrum, Finger jo...	OMIM:212720
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Lipoat...	ORPHA:79083
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Chiari type I malformation, Hematochezia, Lateral ventricle dilatation, Dilated th...	OMIM:619575
Pseudotrisomy 13 Syndrome	Encephalocele, Omphalocele, 11 pairs of ribs, Ventricular septal defect, Dextrocardia, Cleft uppe...	OMIM:264480
Atrial Standstill 1	Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at...	OMIM:108770
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent...	OMIM:613876
Developmental And Epileptic Encephalopathy 59	Ventriculomegaly	OMIM:617904
Naxos Disease	Sudden cardiac death, Cleft upper lip, Congestive heart failure, Cardiomyopathy, Paroxysmal ventr...	ORPHA:34217
Achondrogenesis	Inguinal hernia, Polyhydramnios, Short thorax, Hydrops fetalis, Narrow chest, Long philtrum, Umbi...	ORPHA:932
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu...	ORPHA:99050
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Aplasia/Hypoplasia of the cerebellar vermis, Partial absence of cerebellar vermis, Retrocerebella...	ORPHA:137831
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o...	ORPHA:3097
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Ragged-red muscle fibers, Polyhydramnios	OMIM:616794
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Micrognathia, High, narrow palate, Cleft palate, Abnormal aortic morph...	ORPHA:2516
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	ORPHA:3469
Diabetic Embryopathy	Ventricular septal defect, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall ...	ORPHA:1926
Ataxia-Deafness-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly	ORPHA:1188
Neurocutaneous Melanocytosis	Meningocele, Abnormality of neuronal migration, Intracranial hemorrhage, Chiari malformation, Apl...	ORPHA:2481
Gaucher Disease Type 1	Pericardial effusion, Pedal edema, Pulmonary arterial hypertension, Gingival bleeding, Abnormal m...	ORPHA:77259
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Vent...	OMIM:243150
Primary Ciliary Dyskinesia	Ventriculomegaly, Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Hy...	ORPHA:244
Fryns Syndrome	Tented upper lip vermilion, Ectopic pancreatic tissue, Proximal placement of thumb, Polyhydramnio...	OMIM:229850
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Overlapping fingers, Ventricular septal defect, Rock...	OMIM:301056
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Myocarditis, Congestive ...	ORPHA:206569
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Tetralogy of Fallot, Abnormality of the philtrum, Abnormality of the dentition	ORPHA:276422
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S...	OMIM:126320
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Ventricular septal defect, Clinodactyly, Abnormal heart morphology, Downturned corner...	ORPHA:369891
Symmetrical Thalamic Calcifications	Spasticity, Hypertonia, Ataxia, Abnormality of neuronal migration	ORPHA:1314
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Cerebellar hypoplasia, Agenesis of ...	OMIM:218670
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Congestive heart failure, Abnormal long bone morphology, Ca...	ORPHA:52430
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti...	OMIM:602541
46,Xx Sex Reversal 5	Aplasia of the left hemidiaphragm	OMIM:618901
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Cleft Lip-Retinopathy Syndrome	Non-midline cleft lip	ORPHA:1995
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal...	ORPHA:276241
Trisomy 18	Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,...	ORPHA:3380
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c...	ORPHA:139507
Grange Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp...	ORPHA:79094
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Cleft palate...	ORPHA:2021
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Mucolipidosis Ii Alpha/Beta	Cardiomegaly, Metaphyseal widening, Progressive alveolar ridge hypertropy, Hepatomegaly, Thoracol...	OMIM:252500
Lhermitte-Duclos Disease	Hydrocephalus, Polymicrogyria, Enlarged cerebellum, Ataxia	ORPHA:65285
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Peripheral axonal degeneration, Ataxia, Tremor, Decreased number of large per...	OMIM:208920
Macrocephaly, Benign Familial	Ventriculomegaly	OMIM:153470
Fg Syndrome Type 1	Dental crowding, Abnormal sternum morphology, Fused teeth, High palate, Atrial septal defect, Fin...	ORPHA:93932
Mucolipidosis Type Iii	Inguinal hernia, Abnormal heart valve morphology, Cleft palate, Abnormal aortic valve morphology,...	ORPHA:577
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ...	ORPHA:397946
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Distal sensory impairment, O...	OMIM:615217
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Patent ductus arteriosus, Pectus carinatum, Radioulnar ...	ORPHA:171839
Parietal Foramina 1	Encephalocele, Cleft palate, Cleft upper lip	OMIM:168500
Alg9-Cdg	Villous atrophy, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular outflow...	ORPHA:79328
14Q24.1Q24.3 Microdeletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Short thumb, Abnormal heart morphology, Long...	ORPHA:401935
Sick Sinus Syndrome 2	Aortic regurgitation, Atrial fibrillation, Paroxysmal atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Neuronal Intranuclear Inclusion Disease	CSF pleocytosis, Syncope, Increased CSF protein concentration, Ventriculomegaly	OMIM:603472
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Spastic tetraparesis, Simplified gyral pattern, Abnormality of neuronal migration, Hemiparesis, G...	OMIM:604317
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Complete atrioventricular canal d...	OMIM:619343
Distal Myotilinopathy	Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn...	ORPHA:98911
Diamond-Blackfan Anemia 10	Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Patent...	OMIM:613309
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, ...	ORPHA:300570
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Capillary Malformation-Arteriovenous Malformation	Abnormal bleeding, Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Epistaxis, Lymphe...	ORPHA:137667
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un...	OMIM:609270
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Hypoplasia of the pons, Perisylvian polymicrogyria, Rhombencephalos...	ORPHA:280195
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Morbid Obesity And Spermatogenic Failure	Myocardial infarction, Congestive heart failure, Hypertension, Hepatic steatosis, Premature coron...	OMIM:615703
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Mucopolysaccharidosis Type 1	Inguinal hernia, Abnormal heart valve morphology, Malabsorption, Congestive heart failure, Spleno...	ORPHA:579
Rin2 Syndrome	Irregular dentition, Brachydactyly, Gingival overgrowth, Upper eyelid edema, Abnormal lip morphol...	ORPHA:217335
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Tented upper lip vermilion, Polyhydramnios, Deep philtrum, Flexion contracture, Abnormal aortic a...	ORPHA:96334
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotran...	OMIM:608779
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce...	OMIM:601349
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Death in infancy, Hepatomegaly, Ventricular septal defect, Neonatal death, Ven...	OMIM:613730
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity	OMIM:616494
Trigonocephaly 1	Omphalocele, High, narrow palate, Meckel diverticulum, Long philtrum	OMIM:190440
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger sy...	OMIM:235510
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Congestive heart failure	OMIM:301021
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin...	OMIM:613327
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Spastic dysarthria, Dysdiado...	ORPHA:313772
Aymé-Gripp Syndrome	Thin upper lip vermilion, Pericarditis, Inguinal hernia, Rocker bottom foot, Congenital diaphragm...	ORPHA:1272
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Ventriculomegaly	OMIM:617051
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, High palate, Atrial septal defect, Patent foramen ovale, Cleft l...	ORPHA:2745
Thyroid Hemiagenesis	Macroglossia, Jaundice, Umbilical hernia	ORPHA:95719
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal bleeding, Intestinal lymphangiectasia, Generalized edema	OMIM:207731
Cognitive Impairment With Or Without Cerebellar Ataxia	Cerebellar atrophy, Ataxia, Optic nerve hypoplasia, Dysmetria, Gait ataxia	OMIM:614306
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Ataxia, Periventricular heterotopia, Rigidity, Hydrocephalus, Optic atrophy, Sp...	OMIM:618476
Carpenter Syndrome	Finger syndactyly, Syndactyly, Toe syndactyly, Patent ductus arteriosus, Postaxial hand polydacty...	ORPHA:65759
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:618022
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Tapered finger, Long fingers, Thick lower lip vermilion, Atrioventricular block, Bradycardia, Joi...	OMIM:614407
Arterial Tortuosity Syndrome	Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Femoral hernia, Arachnodactyly,...	ORPHA:3342
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, High palate, Atria...	OMIM:612946
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia	OMIM:614654
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Intestinal lymphedema, Edema, Right ventricular failure, Celiac disease, ...	ORPHA:90363
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, Tremor, Situs inversu...	ORPHA:475
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Hypoplasia of first ribs, Foot ...	OMIM:154400
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait at...	OMIM:614575
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Accessory oral frenulum, Hamartoma of tongue, Congenital diaphragmatic hernia, Aplastic clavicle,...	OMIM:616546
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather...	ORPHA:280679
Necrotizing Enterocolitis	Shock, Edema, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, Gastroschisis, As...	ORPHA:391673
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ...	ORPHA:3405
Mitochondrial Complex I Deficiency, Nuclear Type 37	Skeletal muscle atrophy, Inguinal hernia, Stroke-like episode, High palate, Bradycardia, Pulmonar...	OMIM:619272
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v...	ORPHA:2184
Combined Oxidative Phosphorylation Defect Type 39	Abnormal cerebellum morphology, Increased CSF lactate, Lateral ventricle dilatation, Bradycardia,...	ORPHA:565624
Fetal Trimethadione Syndrome	Ventricular septal defect, Micrognathia, High palate, Transposition of the great arteries, Atrial...	ORPHA:1913
Multiple Pterygium Syndrome, X-Linked	Micrognathia, Cleft upper lip, Flexion contracture, Cleft palate, Amyoplasia, Hypoplastic heart, ...	OMIM:312150
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora...	ORPHA:980
Ehlers-Danlos Syndrome, Classic Type, 1	Hyperextensibility of the finger joints, Inguinal hernia, Pectus excavatum, Cigarette-paper scars...	OMIM:130000
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Clinodactyly, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Hepatomegaly, ...	OMIM:280000
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,...	OMIM:615491
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec...	ORPHA:66529
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor...	OMIM:215470
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:602501
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Inability to walk, Dysplastic cor...	ORPHA:357058
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Congestive heart fail...	ORPHA:3386
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation, Pachygyria, Agyria	ORPHA:2148
Hellp Syndrome	Elevated hepatic transaminase, Pulmonary edema, Cerebral hemorrhage, Prolonged prothrombin time, ...	ORPHA:244242
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia	OMIM:612020
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi...	OMIM:300952
Hec Syndrome	Communicating hydrocephalus, Polyhydramnios, Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia	ORPHA:2119
Juvenile Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Protruding tongue, Gingival overgrowth, Hepatosplenomegaly, Abnorm...	ORPHA:93399
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture	OMIM:618120
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Hypopla...	OMIM:610688
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Distal widening of m...	OMIM:602535
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi...	OMIM:614302
Teebi Hypertelorism Syndrome 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Ventricular septal defect, S...	OMIM:145420
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Polyhydramnios...	OMIM:247200
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Death in infancy, Microvesicular hepatic steatosis, Congestive hea...	OMIM:611126
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine...	OMIM:200990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Subcortical heterotopia, Agyria, Type II lissencephaly, Pachygyria, Hydrocephalus,...	OMIM:614643
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inguinal hernia, Multiple joint contractures, Short fourth metatarsal, Brachydactyl...	OMIM:618143
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem mo...	ORPHA:163961
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major...	ORPHA:2911
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Inguinal hernia, Intestinal malrotation, Portal hypertension, Pect...	OMIM:613658
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Aicardi-Goutieres Syndrome 9	Pericarditis, Edema, Portal hypertension, Pericardial effusion, Hypertension, Lower limb hyperton...	OMIM:619487
Gillespie Syndrome	Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Cerebellar hypoplasia, Truncus arter...	OMIM:206700
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Hamartoma of tongue, Coarctation of aorta, Subvalvular ao...	OMIM:217085
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
Developmental And Epileptic Encephalopathy 54	Ventriculomegaly	OMIM:617391
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Proximal placement of thumb, High, narrow palate, Downturned cor...	OMIM:122470
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Congenital diaphragmatic hernia, Polyhydramnios, Patent ductus arteriosus, Cleft p...	OMIM:614080
Intellectual Disability, Buenos-Aires Type	Abnormal dental morphology, Open bite, Dental malocclusion, Pectus carinatum, Abnormal pelvic gir...	ORPHA:3079
Aneurysm-Osteoarthritis Syndrome	Pectus carinatum, High palate, Abdominal aortic aneurysm, Bifid uvula, Arachnodactyly, Arterial t...	ORPHA:284984
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Dy...	OMIM:612674
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Aggressive behavior, P...	ORPHA:284169
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,...	OMIM:619566
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:500159
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Neonatal death, Death in infancy, Hypertrophic cardiomyopathy, Increased CSF lactate	OMIM:617184
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Hydrocephalus, Chiari malformation, Cerebral ischemia, Aplasia/Hypopl...	ORPHA:60040
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A...	ORPHA:98759
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Secundum atrial septal defect, Wide mouth, Hypertension, Short foot, Median pseudocleft lip, Clin...	OMIM:619758
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation, Pontocerebellar atrophy	OMIM:617854
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
15Q11.2 Microdeletion Syndrome	Dilated fourth ventricle, Ataxia, Ventricular septal defect, Poor coordination, Abnormal heart mo...	ORPHA:261183
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema	ORPHA:79126
Congenital Aortic Valve Stenosis	Thoracic aortic aneurysm, Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aort...	ORPHA:3093
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o...	ORPHA:399086
Holoprosencephaly 14	Cerebellar atrophy, Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aquedu...	OMIM:619895
3-Hydroxyisobutyric Aciduria	Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly	ORPHA:939
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Inguinal hernia, High palate, Long philtrum, Umbilical hernia, Smooth p...	OMIM:613544
Fetal Akinesia Deformation Sequence 3	Overlapping fingers, Rocker bottom foot, Generalized edema	OMIM:618389
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy	ORPHA:79230
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Non-midline cleft lip	ORPHA:2007
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Orofacial cleft, Pectus carinatum, Downturned corners of mouth, Short...	ORPHA:1507
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Intellectual Developmental Disorder, X-Linked 111	Ventriculomegaly	OMIM:301107
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Edema, Splenomegaly, Jaundice, Hepatosplenomegaly, P...	OMIM:603553
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Lateral ventricle dilatation, Dilated third ventricle, Agenesis ...	ORPHA:464738
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Dysplastic corpus callosum, Abnormal pyramidal sign, ...	OMIM:614833
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure	ORPHA:53296
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ...	OMIM:615745
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac...	ORPHA:70
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Abnormal heart valve morphology, Dental crowding, Abnormality of the dentition, Small hand, Mitra...	ORPHA:2868
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Short lingual frenulum, Anomalous origin of left coronary artery from the p...	ORPHA:2326
Cebalid Syndrome	Congenital diaphragmatic hernia	OMIM:618774
Non-Involuting Congenital Hemangioma	Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges...	ORPHA:141179
Mesomelia-Synostoses Syndrome	Brachydactyly, Aplasia/Hypoplasia of the uvula, High, narrow palate, Narrow mouth, Abnormal tibia...	ORPHA:2496
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Bicuspid aortic valve, Optic nerve hypoplasia, Facial palsy, Truncus arteri...	ORPHA:508498
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Bowing of the long bones, Radial bowing, Intestinal malrotation, Splenomegaly, Abnor...	ORPHA:3035
Spastic Ataxia 3, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Loss of ambulation, Spasticit...	OMIM:611390
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m...	OMIM:609308
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Ventriculomegaly	OMIM:300699
Geleophysic Dysplasia 1	Short palm, Hepatomegaly, Camptodactyly of finger, Tricuspid stenosis, Coxa valga, Pectus excavat...	OMIM:231050
Kniest Dysplasia	Hip contracture, Inguinal hernia, Dumbbell-shaped long bone, Pectus excavatum, Delayed epiphyseal...	OMIM:156550
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia	OMIM:613909
Mucolipidosis Type Ii	Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Patent foramen ovale, Tela...	ORPHA:576
Lateral Meningocele Syndrome	Decreased muscle mass, Inguinal hernia, Dental crowding, Bicuspid aortic valve, Ventricular septa...	OMIM:130720
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Inguinal hernia	OMIM:245550
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Hy...	OMIM:101200
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Bicuspid aortic valve, Cleft upper lip, Patent ductus arteriosus, Orofa...	OMIM:243310
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail...	ORPHA:99901
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Ventricular septal defect, Wide mouth, Delayed eruption of permanent tee...	OMIM:618506
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Meacham Syndrome	Bicuspid aortic valve, Scimitar anomaly, Neonatal death, Atrial septal defect, Diaphragmatic even...	OMIM:608978
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Non-midline cleft lip, Orofacial cleft, Cleft palate, Wide mouth...	ORPHA:2549
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Hydrocephalus, Dilated cardiomyop...	ORPHA:398124
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Wide mouth, High, narrow palate, Umbilical hernia, Downturned corners of mouth	OMIM:273390
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo...	OMIM:609286
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Abnormal metacarpophalangeal joint morph...	ORPHA:465508
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Cutis Laxa, Autosomal Recessive, Type Ib	Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Arterial tortuosity, Pectus exc...	OMIM:614437
Testicular Anomalies With Or Without Congenital Heart Disease	Tetralogy of Fallot	OMIM:615542
Hunter-Macdonald Syndrome	Aortic regurgitation, Thin upper lip vermilion, Inguinal hernia, Epiphyseal dysplasia, Bicuspid a...	OMIM:611962
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Cleft upper lip, Absent pulmonary artery, Patent ductus arteriosus, Cl...	OMIM:600460
White-Sutton Syndrome	Facial hypotonia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Cleft palate, Downtu...	OMIM:616364
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Congenital Generalized Lipodystrophy	Hepatomegaly, Prominent superficial veins, Lipodystrophy, Congestive heart failure, Adipose tissu...	ORPHA:528
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Inguinal hernia, Sandal gap, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the ...	OMIM:618914
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Mucopolysaccharidosis Type 7	Inguinal hernia, Lymphedema, Metatarsus adductus, Splenomegaly, Hepatitis, Hydrops fetalis, Epiph...	ORPHA:584
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Inguinal hernia, Finger syndactyly, Camptodactyly of finger, Pectus exca...	ORPHA:2990
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Abnormal lymphatic vesse...	ORPHA:464329
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Patent d...	OMIM:619769
Walker-Warburg Syndrome	Ventriculomegaly, Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Optic atrophy, Abnor...	ORPHA:899
Mitochondrial Complex I Deficiency, Nuclear Type 31	Ventriculomegaly	OMIM:618251
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Progressive cerebellar ataxia	ORPHA:276183
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy	ORPHA:91130
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Mitochondrial Complex I Deficiency, Nuclear Type 16	Aplasia of the left hemidiaphragm	OMIM:618238
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Polyhydramnios, Atrial septal defec...	ORPHA:818
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Hurler-Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Thenar muscle atrop...	OMIM:607015
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Abnormality of the philtrum, Non-midline cleft lip, Cleft palate, Umbi...	ORPHA:1770
Ventriculomegaly With Cystic Kidney Disease	Ventriculomegaly, Ventricular septal defect, Polyhydramnios, Hydrocephalus, Vascular dilatation	OMIM:219730
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat...	ORPHA:2929
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Atrial ...	OMIM:241310
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo...	OMIM:607155
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Joubert Syndrome 9	Encephalocele, Molar tooth sign on MRI, Ventriculomegaly	OMIM:612285
Lymphoproliferative Syndrome 1	Pericardial effusion, Pleural effusion	OMIM:613011
Central Precocious Puberty In Male	Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma	ORPHA:649929
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia, Pyloric ste...	ORPHA:1001
Pallister-Hall-Like Syndrome	Occipital encephalocele, Median cleft lip, Micromelia, Micrognathia, Hydrocephalus, Cleft palate,...	OMIM:241800
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Pectus excavatum, Congestive heart failure, Splenomegaly, Flexion contracture, Pate...	OMIM:617303
Aase-Smith Syndrome I	Hydrocephalus, Flexion contracture, Ventricular septal defect, Dandy-Walker malformation	OMIM:147800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Meckel Syndrome, Type 1	Occipital encephalocele, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Malformation o...	OMIM:249000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Vasc...	OMIM:603387
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Preaxial hand polydactyly, Cervical ribs, Sprengel anomaly, Prune belly, Anal atresia	OMIM:601389
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ...	ORPHA:101030
Autosomal Recessive Spastic Paraplegia Type 53	Ventriculomegaly	ORPHA:319199
Holoprosencephaly	Congenital diaphragmatic hernia, Abnormality of the spleen, Deep philtrum, Encephalocele, Bilater...	ORPHA:2162
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Bifid uvula, Dysplastic pulmonary valve, Cleft palate, Cleft upper lip	OMIM:300958
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventriculomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Cholestas...	OMIM:615630
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con...	OMIM:609015
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasis, Pigmentary retino...	ORPHA:746
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Tricuspid regurgitation, Exaggerated cupid's bow, Ventricular septal...	OMIM:615879
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Generalized edema, Intestinal malrotation, Oligohydramnios	OMIM:249210
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Pulmonary arterial hypertension, Bradycardia, Decreased liver func...	OMIM:616299
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus, Cleft palate, Cleft upper lip	ORPHA:398189
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Aplasia/Hypoplasi...	ORPHA:1647
Weill-Marchesani Syndrome 2	Short metatarsal, High palate, Broad ribs, Broad metacarpals, Short metacarpal, Patent ductus art...	OMIM:608328
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Cardiomyopathy, Later...	ORPHA:572798
8Q12 Microduplication Syndrome	Ventricular septal defect, Short foot, Everted lower lip vermilion, Narrow mouth, Atrial septal d...	ORPHA:228399
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, Tremor, Hydrocephalus...	ORPHA:220497
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru...	ORPHA:247815
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ...	OMIM:212112
Cednik Syndrome	Congestive heart failure, Stroke, Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:66631
Renal Tubular Dysgenesis	Tetralogy of Fallot, Polyhydramnios, Oligohydramnios	ORPHA:3033
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Sho...	OMIM:239300
Trisomy 5P	Ventriculomegaly	ORPHA:1742
Diets-Jongmans Syndrome	Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic he...	OMIM:618846
Microhydranencephaly	Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Agenesis of corp...	OMIM:605013
Codas Syndrome	Delayed eruption of teeth, Omphalocele, Short metacarpal, Congenital hip dislocation, Ventricular...	OMIM:600373
Ovarian Hyperstimulation Syndrome	Generalized edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Pulm...	ORPHA:64739
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia	OMIM:618858
Lambert Syndrome	Wide mouth, Malar flattening, Branchial anomaly, Ventricular septal defect	ORPHA:1296
Houge-Janssens Syndrome 3	Inguinal hernia, Muscular ventricular septal defect, High palate, Short philtrum, Atrial septal d...	OMIM:618354
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Imagawa-Matsumoto Syndrome	Anteriorly placed anus, Umbilical hernia, Clinodactyly, Camptodactyly	OMIM:618786
Matthew-Wood Syndrome	Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Congenital diap...	ORPHA:2470
Intellectual Developmental Disorder, Autosomal Recessive 79	Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Short hallux	OMIM:620393
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Pediatric Systemic Lupus Erythematosus	Myositis, Edema, Pericardial effusion, Raynaud phenomenon, Pleural effusion, Ascites	ORPHA:93552
Shprintzen-Goldberg Syndrome	Inguinal hernia, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Missing ribs,...	ORPHA:2462
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Downturned corners of mouth, Short phil...	ORPHA:280
Johanson-Blizzard Syndrome	Anteriorly placed anus, Downturned corners of mouth, Hepatic fibrosis, Elevated gamma-glutamyltra...	OMIM:243800
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Luo-Schoch-Yamamoto Syndrome	Tricuspid regurgitation, Small hand, Wide mouth, Widely-spaced maxillary central incisors, Short ...	OMIM:619460
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Dextrocardia, Aganglionic megacolon, Tremor,...	ORPHA:220493
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Facial Clefting, Oblique, 1	Cleft palate, Cleft upper lip	OMIM:600251
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Hydrocephalus	OMIM:614886
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hydrocephalus, Chiari type I malformation, Agenesis of corpus callosum...	OMIM:218350
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Micrognathia, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic morpholog...	ORPHA:2001
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal jugular vein morphology, Edema of the dorsum of feet, Increased...	ORPHA:275766
Thanatophoric Dysplasia Type 2	Encephalocele, Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosus, Hydroceph...	ORPHA:93274
Marden-Walker Syndrome	Decreased muscle mass, Inguinal hernia, Arachnodactyly, Dextrocardia, High, narrow palate, Narrow...	OMIM:248700
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Hepatomegaly, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy	ORPHA:254913
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cl...	OMIM:106260
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Pulmonary artery stenosis,...	OMIM:611812
Leukoencephalopathy, Cystic, Without Megalencephaly	Ventriculomegaly	OMIM:612951
Li-Campeau Syndrome	Ventricular septal defect, Patent ductus arteriosus, Patellar hypoplasia, Long philtrum, Atrial s...	OMIM:619189
Slc35A2-Cdg	Cerebellar atrophy, Abnormal midbrain morphology, Lateral ventricle dilatation, Atrophy/Degenerat...	ORPHA:356961
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Ataxia, Cardiomegaly, Dysesthesia, Unsteady gait, Babinski sign, Optic atroph...	OMIM:619259
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ...	OMIM:608758
Transaldolase Deficiency	Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Coarctation of aorta, Atrial s...	ORPHA:101028
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hypoplasia, Agenesis of cor...	OMIM:615249
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Cerebellar vermis atrophy, Simplified gyral pattern, Ventriculomegaly	OMIM:615760
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis...	OMIM:300845
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Perisylvian polymicrogyria, Ventriculomegaly, Atrophy/Degeneration affecting ...	OMIM:619606
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Multiple Benign Circumferential Skin Creases On Limbs	Inguinal hernia, Edema, Congestive heart failure, Cleft palate, Long philtrum, Umbilical hernia	ORPHA:2505
Heterotaxy, Visceral, 5, Autosomal	Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent du...	OMIM:270100
Attrv30M Amyloidosis	Cardiomegaly, Vitreous floaters, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervo...	ORPHA:85447
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus, Perivent...	ORPHA:352582
Yoon-Bellen Neurodevelopmental Syndrome	Ventriculomegaly	OMIM:619701
Hypothyroidism Due To Tsh Receptor Mutations	Edema, Delayed proximal femoral epiphyseal ossification, Macroglossia, Bradycardia, Abnormal epip...	ORPHA:90673
Shprintzen-Goldberg Craniosynostosis Syndrome	Inguinal hernia, Arachnodactyly, Metatarsus adductus, Lateral clavicle hook, Metaphyseal widening...	OMIM:182212
Proximal 16P11.2 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:370079
Hyperparathyroidism, Transient Neonatal	Inguinal hernia, Short femur, Metaphyseal spurs, Polyhydramnios, Patent ductus arteriosus, Undula...	OMIM:618188
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Periventricular heterotopia, Partial agenesis of the corpus callosum, M...	ORPHA:434179
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Ventriculomegaly	OMIM:617977
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Acute pan...	ORPHA:26791
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small hypothenar eminence, Inguinal hernia, Spina bifida, Mitral valve prolapse, Small thenar emi...	OMIM:211960
Cln3 Disease	Left ventricular hypertrophy, T-wave inversion, Bradycardia	ORPHA:228346
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Developmental And Epileptic Encephalopathy 9	Ventriculomegaly	OMIM:300088
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Cleft palate, Hypodontia, Microdontia, Malar flatte...	OMIM:225060
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar...	OMIM:618598
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Inguinal hernia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature,...	ORPHA:1101
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites	OMIM:618183
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Ventriculomegaly	OMIM:618974
Developmental And Epileptic Encephalopathy 70	Ventriculomegaly	OMIM:618298
Dextrocardia	Abnormal EKG, Congenital hip dislocation, Intestinal malrotation, Dextrocardia, Situs inversus to...	ORPHA:1666
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata...	OMIM:183086
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Prolonged prothrombin time, Generalized edema	OMIM:267700
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Mitral valve prolapse	ORPHA:2183
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Micrognathia, Cleft upper lip, Patent ductus arteriosus, Cleft palate,...	OMIM:153400
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Pursed lips, Inguinal hernia, Metatarsus adductus, Calcaneoval...	OMIM:616266
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Facial palsy, Congenital diaphragmatic hernia, Cleft lip, Cleft palate,...	OMIM:301022
Muscular Hypertonia, Lethal	Umbilical hernia	OMIM:254120
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Ventriculomegaly	ORPHA:2172
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin...	OMIM:610168
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Tricuspid regurgitation, Hydrocephalus, Lateral ventricle dilatatio...	OMIM:612863
Congenital Disorder Of Glycosylation, Type Ia	Dilated fourth ventricle, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, F...	OMIM:212065
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Incomplete cleft of the upper lip, Deep philtrum, Orofacial cleft, Micrognathia	ORPHA:77300
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG, Muscular dystrophy	OMIM:309930
Hartsfield Syndrome	Encephalocele, Non-midline cleft lip, Cleft palate, Lobar holoprosencephaly, Aplasia/Hypoplasia o...	ORPHA:2117
13Q12.3 Microdeletion Syndrome	Thin upper lip vermilion, Congenital diaphragmatic hernia, Upper eyelid edema, Oligodontia, Hip d...	ORPHA:412035
Rhombencephalosynapsis	Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Ataxi...	ORPHA:59315
X-Linked Ehlers-Danlos Syndrome	Umbilical hernia, Inguinal hernia, Bruising susceptibility, Hernia	ORPHA:75497
Noonan Syndrome 8	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg...	OMIM:615355
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ventriculomegaly	OMIM:619150
Nephronophthisis 18	Hypertension, Hydrocephalus	OMIM:615862
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Clinodactyly, Double outlet right ventricle, Coarctatio...	OMIM:618164
Aortic Aneurysm, Familial Thoracic 9	Atrial fibrillation, Thoracic aortic aneurysm, Arachnodactyly, Pectus excavatum, Mitral valve pro...	OMIM:616166
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Anasarca, Anal atresia, Exocrine pancreatic insufficiency	OMIM:260450
Scarf Syndrome	Inguinal hernia, Diastasis recti, Hepatocellular adenoma, Pectus carinatum, Short sternum, Long p...	ORPHA:3134
Pontocerebellar Hypoplasia, Type 7	Ataxia, Hypoplasia of the pons, Hydrocephalus, Spastic paraplegia, Optic atrophy, Opisthotonus, C...	OMIM:614969
White-Sutton Syndrome	Ventral hernia, Thin upper lip vermilion, Inguinal hernia, Facial hypotonia, Congenital diaphragm...	ORPHA:468678
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hernia, Abnormalit...	OMIM:304110
Velocardiofacial Syndrome	Inguinal hernia, Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard pa...	OMIM:192430
Periventricular Nodular Heterotopia	Aortic regurgitation, Abnormal heart valve morphology, Periventricular heterotopia, Patent ductus...	ORPHA:98892
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Polymicrogyria, Cerebellar hypoplasia	OMIM:618731
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M...	OMIM:300855
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Accessory spleen, Peripheral pulmonary artery stenosis, Ingu...	OMIM:613177
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Hamartoma of tongue, Bifid...	OMIM:174300
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
22Q11.2 Duplication Syndrome	Ventricular septal defect, Micrognathia, Cleft palate, Hypoplastic left heart, Transposition of t...	ORPHA:1727
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft palate, Cleft upper lip	OMIM:120433
Galloway-Mowat Syndrome 5	Pachygyria, Ventriculomegaly	OMIM:617731
Developmental And Epileptic Encephalopathy 65	Cerebellar atrophy, Ventriculomegaly	OMIM:618008
Mosaic Trisomy 9	Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Dextrocardia, Aspleni...	ORPHA:99776
Multiple Sulfatase Deficiency	Cerebellar atrophy, Ataxia, Hydrocephalus, Spasticity, Increased CSF protein concentration, Perip...	OMIM:272200
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Ventricular septal defect, Con...	ORPHA:96121
Cap Myopathy	Thoracic scoliosis, Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Pe...	ORPHA:171881
Joubert Syndrome 18	Occipital encephalocele, Ventricular septal defect, Cleft palate, Lobulated tongue, Camptodactyly...	OMIM:614815
Joubert Syndrome 16	Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation	OMIM:614465
Silver-Russell Syndrome Due To 11P15 Microduplication	Clinodactyly of the 5th finger, Umbilical hernia, Oligohydramnios	ORPHA:231144
Q Fever	Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Abnormal vascul...	ORPHA:781
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli...	ORPHA:199302
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios	OMIM:263630
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Inguinal hernia, Joint contracture, Bradycardia, Limb hypertonia	OMIM:614498
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Abnormal cerebellum morphology,...	OMIM:618652
Babesiosis	Hepatomegaly, Myocardial infarction, Splenomegaly, Congestive heart failure, Jaundice, Hepatic fa...	ORPHA:108
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Oculodentodigital Dysplasia	Abnormal clavicle morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental ...	ORPHA:2710
Kagami-Ogata Syndrome	Omphalocele, Pursed lips, Inguinal hernia, Diastasis recti, Thoracic hypoplasia, Coxa valga, Poly...	ORPHA:254519
Pseudoaminopterin Syndrome	Asplenia, Orofacial cleft, High palate, Short philtrum, Microdontia, Patent foramen ovale, Synost...	ORPHA:221120
Hydrops Fetalis, Nonimmune	Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:236750
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Omphalocele, Intestinal malrotation, Polyhydramnios, Postaxial hand polydactyly, C...	ORPHA:2166
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Ventriculomegaly	ORPHA:521390
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Anteriorly placed anus, Prominent fingertip pads, S...	OMIM:305450
Distal Deletion 19P	Long toe, Vaginal hernia, Ventricular septal defect, Arachnodactyly, Cleft palate, Keloids, Short...	ORPHA:96129
Spinocerebellar Ataxia Type 8	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste...	ORPHA:98760
Kohlschutter-Tonz Syndrome	Cerebellar hypoplasia, Ventriculomegaly	OMIM:226750
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft	OMIM:141400
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Downturned...	ORPHA:1780
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Aplasia/Hypoplasia of the cerebellum, Hypertonia, Optic atrophy, Abnormality of neuronal migration	ORPHA:2518
1Q41Q42 Microdeletion Syndrome	Cleft palate, Submucous cleft hard palate, Thick vermilion border, Congenital diaphragmatic hernia	ORPHA:250999
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction	OMIM:606842
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Pectus carinatum, Abnormal sternum morphology,...	OMIM:613795
Hamel Cerebro-Palato-Cardiac Syndrome	Micrognathia, Cleft palate, Narrow mouth, Atrial septal defect, Malar flattening	ORPHA:93946
Essential Fructosuria	Hyperglycemia	ORPHA:2056
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Cleft palate	ORPHA:85273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar vermis hypoplasia, Hydrocephalus, Polymicrogyria, Agyria, Ventriculomegaly, Cerebellar...	OMIM:616538
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Inguinal hernia, Congenital hip dislocation, Bicuspid aortic valve, Dext...	ORPHA:536545
Zimmermann-Laband Syndrome 1	Delayed eruption of teeth, Hepatomegaly, Aortic arch aneurysm, Hyperextensibility of the finger j...	OMIM:135500
Gaucher Disease Type 3	Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c...	ORPHA:77261
Hajdu-Cheney Syndrome	Pectus carinatum, Downturned corners of mouth, Periodontitis, Hernia, Partial absence of toe, Hep...	ORPHA:955
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl...	OMIM:617336
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella...	OMIM:277460
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia ...	ORPHA:2524
Orofaciodigital Syndrome Vi	11 pairs of ribs, Short femur, Accessory oral frenulum, Micrognathia, Cleft upper lip, Hamartoma ...	OMIM:277170
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at...	ORPHA:98768
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Polyhydramnios, Hydrocephalus, Transposition of the great arteries, Neonatal death,...	OMIM:314390
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:488627
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Inguinal hernia, Facial hypotonia, Dental crowding, Arachnodactyly, Narrow mouth, Adducted thumb,...	OMIM:615539
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Cardiomyopathy, Familial Restrictive, 6	Death in infancy, Hepatomegaly, Tricuspid regurgitation, Pulmonary insufficiency, Pulmonic stenos...	OMIM:619433
German Syndrome	Camptodactyly of finger, Micrognathia, Orofacial cleft, Abnormal cardiac septum morphology, High ...	ORPHA:2077
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Inguinal hernia, Abnormal heart morphology, Everted lower lip vermilion, Short phi...	OMIM:601499
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Camptodactyly of finger, Exaggerated cupid's...	ORPHA:261236
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Zechi-Ceide Syndrome	Cleft upper lip, Short metatarsal, Cleft palate, Oligodontia, Malar flattening, Short distal phal...	OMIM:612916
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Short distal phalanx of toe, Inguinal hernia, Abnormal mitral valve morphology, Symphalangism aff...	ORPHA:1292
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Arachnodactyly, Tapered finger, Secundum atr...	ORPHA:1600
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Edema, Intestinal perforation, Myocarditis, Pancreatitis, Hypertension, Pleu...	ORPHA:544482
Fumarase Deficiency	Intrahepatic cholestasis, Optic atrophy, Choroid plexus cyst, Perimembranous ventricular septal d...	OMIM:606812
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Mitral valve ...	OMIM:104350
Pettigrew Syndrome	Ventriculomegaly, Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Optic atrophy...	OMIM:304340
Oxoglutarate Dehydrogenase Deficiency	Ventriculomegaly	OMIM:203740
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy...	OMIM:615352
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Cleft upper lip, Cleft palat...	ORPHA:2008
Ehlers-Danlos Syndrome, Periodontal Type, 1	Alveolar bone loss around teeth, Prominent superficial veins, Inguinal hernia, Arachnodactyly, Hi...	OMIM:130080
Lambotte Syndrome	Narrow mouth, Retrognathia, Ventricular septal defect, Semilobar holoprosencephaly	OMIM:245552
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618577
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation, Optic atrophy	ORPHA:93262
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Exaggerated cupid's bow, Bicuspid aortic valve, Tapered finger, Wide mouth, Macroglossia, High pa...	OMIM:614501
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Metaphyseal dysplasia, Jaundi...	ORPHA:1667
De Barsy Syndrome	Delayed eruption of teeth, Decreased muscle mass, Inguinal hernia, Ventricular septal defect, Lip...	ORPHA:2962
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Cholangitis, Edema, Short metatarsal, Widely spaced teeth, High palate, Hepatic fibrosis, Narrow ...	OMIM:266920
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ...	OMIM:611134
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	ORPHA:3449
Aortic Valve Disease 2	Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc...	OMIM:614823
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Splenomegaly, Dilated cardiomyopathy, Rhabdomyolysis, Cardiomy...	OMIM:300842
Meester-Loeys Syndrome	Aortic dissection, Arachnodactyly, Gingival overgrowth, Mitral valve prolapse, Ascending tubular ...	OMIM:300989
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Inguinal hernia, Bone-marrow foam cells, Cardiomegaly, Fac...	OMIM:256550
Poems Syndrome	Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites	ORPHA:2905
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Arthrogryposis multiplex congenita, Non-midline cleft lip, Cleft palate	ORPHA:1484
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Polyhydramnios, Coxa vara, Sprengel anomaly, Pectus carinatum, High pala...	ORPHA:800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cerebellar dysplasia, Type II lissencephaly, Partial absence of cerebellar vermis,...	OMIM:613150
Lethal Osteosclerotic Bone Dysplasia	Micrognathia, Gingival overgrowth, Gingival fibromatosis, Mandibular aplasia, Retrognathia, Media...	ORPHA:1832
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Abnormality of the dentition, Tapered finger, Thick lower lip vermi...	ORPHA:261652
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Congenital diaphragmatic hernia	OMIM:606164
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
3C Syndrome	Atrial septal defect, Ventriculomegaly, Ventricular septal defect, Abnormal mitral valve morpholo...	ORPHA:7
Macs Syndrome	Irregular dentition, Brachydactyly, Dilation of Virchow-Robin spaces, Palpebral edema, Prolonged ...	OMIM:613075
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Intestinal malrotation, Polyhydramnios, Hypoperistalsis, Neoplasm of the heart, Umbi...	ORPHA:2241
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Myelomeningocele, Non-midline cleft lip, Orofacial cleft, ...	ORPHA:1752
Intellectual Developmental Disorder, Autosomal Recessive 46	Ventriculomegaly	OMIM:616116
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Inguinal hernia, Tricuspid regurgitation, Redundant umbilical skin, Clef...	OMIM:614557
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Cerebellar hypoplasia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:168486
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Gingival overgro...	ORPHA:96191
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Mastocytosis, Cutaneous	Hypermelanotic macule, Edema, Telangiectasia macularis eruptiva perstans	OMIM:154800
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect...	OMIM:300166
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	ORPHA:228190
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI, Gray matter heterotopia, Ventriculomegaly	OMIM:617563
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Dextrocardia, Pectus excavatum, High, narrow palate, Long fingers, Abn...	ORPHA:96092
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Orofacial ...	ORPHA:268249
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ...	OMIM:249270
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Polymicrogyria, Ventriculomegaly	OMIM:614254
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal dental morphol...	ORPHA:217085
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi...	OMIM:200980
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Pectus excavatum, Cleft lip, Bilateral wrist flexion contracture,...	ORPHA:97297
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Brachydactyly, Dental crowding, Cleft soft palate, Abnormality of the d...	OMIM:616331
Baraitser-Winter Syndrome 2	Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Lissencephaly	OMIM:614583
Thanatophoric Dysplasia	Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosus, Hydrocephalus, Atrial se...	ORPHA:2655
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebellar atrophy, Cerebellar hypoplasia, Ventriculomegaly	OMIM:619922
Medulloblastoma	Ataxia, Cerebellar calcifications, Hydrocephalus, Dysmetria, Abnormal cranial nerve morphology, P...	ORPHA:616
Nephrotic Syndrome, Type 8	Edema, Generalized edema	OMIM:615244
Down Syndrome	Ventricular septal defect, Short middle phalanx of the 5th finger, Protruding tongue, Complete at...	OMIM:190685
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620156
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Trisomy 13	Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P...	ORPHA:3378
Distal Monosomy 7Q36	Micrognathia, Non-midline cleft lip, Cleft palate, Wide mouth, Holoprosencephaly	ORPHA:1636
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala...	OMIM:613870
Castleman Disease	Restrictive cardiomyopathy, Intestinal obstruction, Anasarca, Jaundice	ORPHA:160
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Intellectual Developmental Disorder, Autosomal Recessive 13	Downturned corners of mouth, Short philtrum, Smooth philtrum, Cleft upper lip	OMIM:613192
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Hydrolethalus	Micromelia, Micrognathia, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Gingival cleft...	ORPHA:2189
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, ...	OMIM:619064
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Barrel-shaped chest, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductu...	ORPHA:505248
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Hypoplasia of the pons, Simplified gyral pattern, Extra-axial cerebrospinal fluid accumulation, C...	OMIM:617669
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Short thumb, Patent ductus a...	OMIM:244300
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot...	OMIM:614175
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Corneal scarring...	OMIM:614653
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Menkes Disease	Venous insufficiency, Intracranial hemorrhage, Narrow chest, Hernia, Abnormal carotid artery morp...	ORPHA:565
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal dental morphol...	ORPHA:217093
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Absent middle phalanx of 3rd finger, Flexion c...	OMIM:308050
Frank-Ter Haar Syndrome	Secundum atrial septal defect, High palate, Short palm, Atrial septal defect, Short phalanx of fi...	OMIM:249420
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in...	ORPHA:86812
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, N...	OMIM:304120
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Inguinal hernia, Hypertension, Arrhythmia, Long philtrum, Neonatal death, Umbilical hernia, Hyper...	OMIM:614052
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Nonimmune hydrops fetalis, Beaded ribs, Congestive heart f...	OMIM:166210
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, Hydrocephalus, Abnorm...	ORPHA:2318
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Ventriculomegaly	OMIM:611555
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasciculations, Ventri...	OMIM:617281
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Congenital diaphra...	OMIM:267000
Atransferrinemia	Congestive heart failure, Abnormality of the liver	OMIM:209300
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Seckel Syndrome 10	Ventricular hypertrophy, Retinal detachment, Acute pancreatitis, Elevated circulating aspartate a...	OMIM:617253
Tetrasomy 15Q26	Patent ductus arteriosus, Hydrocephalus, Syringomyelia, Camptodactyly, Atrial septal defect, Dand...	OMIM:614846
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Downturned corners of mouth, W...	OMIM:618067
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Cervical ribs, Dextrocardia	ORPHA:66630
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum, Dandy-Walker malform...	OMIM:164180
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Oligomeganephronia	Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Secundum atrial sept...	ORPHA:2260
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Conical tooth, Prominent interphalangeal joints, Short philtrum,...	OMIM:135900
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Dental crowding, Abnormal heart valve morphology, Mitral valve prolapse,...	ORPHA:228410
Char Syndrome	Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Patent ductus ar...	ORPHA:46627
Distal Deletion 3P	Inguinal hernia, Postaxial hand polydactyly, Cleft palate, Downturned corners of mouth, Thin verm...	ORPHA:1620
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Ventricular septal defect, Splenom...	OMIM:614576
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Increased circulating lactat...	ORPHA:308552
Robinow Syndrome	Dental crowding, Orofacial cleft, Atrial septal defect, Syndactyly, Persistence of primary teeth,...	ORPHA:97360
Joubert Syndrome 32	Molar tooth sign on MRI, Abnormal cerebellum morphology, Hypertrophic cardiomyopathy, Polymicrogyria	OMIM:617757
Lateral Meningocele Syndrome	Inguinal hernia, Ventricular septal defect, Dental crowding, Pectus excavatum, High, narrow palat...	ORPHA:2789
Kabuki Syndrome	Abnormal dental morphology, Congenital diaphragmatic hernia, Lip pit, Abnormality of the dentitio...	ORPHA:2322
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:1496
17P13.3 Microduplication Syndrome	Ventriculomegaly	ORPHA:217385
Orofaciodigital Syndrome Viii	Short tibia, Median cleft lip, High palate, Cleft palate	OMIM:300484
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Cleft lip, Patent ductus arteriosus, Narrow palate, Cleft palate, Sprengel anomaly, Contracture o...	OMIM:618223
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Abnormal pericardium morpho...	ORPHA:67
Atrial Fibrillation, Familial, 13	Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement	OMIM:615377
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension	ORPHA:401923
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Agenesis of corpus callosum, Decreased response to growth hormone stimulation test, Ventriculomegaly	OMIM:615286
Krabbe Disease	Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, Hypertonia, Decerebrate rigidi...	OMIM:245200
Superficial Siderosis	Enlarged sylvian cistern, Abnormal cerebrospinal fluid morphology, Impaired temperature sensation...	ORPHA:247245
Fabry Disease	Transient ischemic attack, Angina pectoris, Myocardial infarction, Congestive heart failure, Vent...	OMIM:301500
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Tooth agenesis,...	OMIM:605676
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hypoplasia of the radius, Subdural h...	OMIM:311900
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short palm, Duplication of the distal phalanx of han...	OMIM:268310
Hydrolethalus Syndrome 1	Accessory spleen, Omphalocele, Median cleft lip, Ventricular septal defect, Polyhydramnios, Compl...	OMIM:236680
Lissencephaly, X-Linked, 2	Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Lissencephaly	OMIM:300215
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Diastasis recti, Thoracic hypoplasia, Short proximal phalanx of finger,...	OMIM:616638
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, Wi...	OMIM:301044
Opitz Gbbb Syndrome	Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Cleft upper lip, Rectoureth...	OMIM:300000
Okamoto Syndrome	Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventric...	ORPHA:2729
Joubert Syndrome 14	Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Cerebellar vermis hypopl...	OMIM:614424
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Hepatomegaly, Finger syndactyly, Ventricular septal defect, Aortopulmonary coll...	OMIM:620025
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem	OMIM:617493
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Ventricular septal defect, Micrognathia, Cardiomegaly, Flexion contracture, Cleft pa...	OMIM:616897
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration	ORPHA:1895
Tetrasomy 9P	Myositis, Dental crowding, Biliary atresia, Downturned corners of mouth, High palate, Short philt...	ORPHA:3310
Developmental And Epileptic Encephalopathy 89	Omphalocele, Thin upper lip vermilion, Flexion contracture, Cleft palate, Narrow chest, Long phil...	OMIM:619124
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Hepatic steatosis, Bifid uvula, Hepatomegaly, Elevated circulating aspartate aminot...	OMIM:614921
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydrocephalus	ORPHA:251046
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	ORPHA:2701
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Cardiomyopa...	OMIM:232500
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Biliary tract abnormality, Membranous subvalvular aortic stenosis, Subvalvular a...	ORPHA:3191
Seckel Syndrome 9	Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Pulmonary artery hypo...	OMIM:616777
Glutathionuria	Tremor, Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor	OMIM:231950
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Abnormal thorax morphology, Bradycardia, Hypotension, Pulmonary edema	ORPHA:70587
Weaver Syndrome	Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa...	OMIM:277590
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn...	ORPHA:91387
Mitral Valve Prolapse 1	Pectus excavatum, High, narrow palate, Mitral valve prolapse, Mitral regurgitation, High palate	OMIM:157700
Cardiac-Valvular Ehlers-Danlos Syndrome	Dental crowding, Calcaneovalgus deformity, Absent phalangeal crease, High palate, Atrial septal d...	ORPHA:230851
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Skeletal muscle atrophy, Arachnodactyly, Wide distal femoral metaphysis, Femor...	OMIM:614856
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Congenital hip dislocation, Pectus excavatum, Hip dislocation, Distal amyotrophy...	OMIM:219150
Filippi Syndrome	Ventricular septal defect, Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrat...	OMIM:272440
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Small pituitary gland, Dysgenesis of the cerebellar vermis, Molar t...	OMIM:619479
Fanconi Anemia	Abnormal femur morphology, Abnormality of the liver, High palate, Triphalangeal thumb, Atrial sep...	ORPHA:84
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ...	ORPHA:2712
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Bladder Exstrophy	Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy	ORPHA:93930
Orofaciodigital Syndrome I	Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu...	OMIM:311200
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Bilateral cleft lip,...	OMIM:618622
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Ventricular septal defect, Thick lower lip vermilion, Submucous cleft hard...	OMIM:619103
Blepharocheilodontic Syndrome 1	Neural tube defect, Hypodontia, Cleft upper lip, Conical tooth	OMIM:119580
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar...	ORPHA:99827
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,...	ORPHA:247234
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Hypoplastic right heart, Micrognathia, Patent ductus arteriosus, High ...	OMIM:618142
Marfan Syndrome	Skeletal muscle atrophy, Dental crowding, High, narrow palate, Pectus carinatum, Arachnodactyly, ...	ORPHA:558
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Carpenter Syndrome 2	High, narrow palate, Preaxial polydactyly, Coxa vara, Knee flexion contracture, Pectus carinatum,...	OMIM:614976
Cog5-Cdg	Cerebellar atrophy, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem	ORPHA:263487
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Bartsocas-Papas Syndrome 1	Flexion contracture, Hypoplastic iliac wing, Short phalanx of finger, Patent foramen ovale, Infer...	OMIM:263650
Focal Dermal Hypoplasia	Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa...	OMIM:305600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve...	OMIM:615287
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Thin upper lip vermilion, Ventricular septal defe...	ORPHA:435638
Bilateral Perisylvian Polymicrogyria	Cerebellar dysplasia, Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor ...	ORPHA:98889
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo...	ORPHA:774
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	OMIM:604381
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect, Ventriculomegaly, Coarctation of aorta	OMIM:620210
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation	OMIM:619847
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	High palate, Atrial septal defect, Ecchymosis, Long philtrum, Tricuspid regurgitation, Arachnodac...	OMIM:601776
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Absent thumb, Carious teeth, Nar...	ORPHA:96097
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, High, narrow ...	OMIM:619472
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Inguinal hernia, Pectus excavatum, Calcaneovalgus deformity, Mitral valve p...	OMIM:225320
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, ...	ORPHA:245
Esophageal Atresia	Omphalocele, Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Polyhydramnios...	ORPHA:1199
Tetrasomy 5P	Pericallosal lipoma, Overlapping toe, Short hallux, Pectus excavatum, Congestive heart failure, L...	ORPHA:3309
Meckel Syndrome, Type 7	Inguinal hernia, Portal hypertension, Pancreatic cysts, Situs inversus totalis, Patent ductus art...	OMIM:267010
Microphthalmia With Limb Anomalies	Cleft upper lip, Deep philtrum, Hand oligodactyly, Fibular hypoplasia, Cleft palate, Interrupted ...	OMIM:206920
Illum Syndrome	Calcinosis, Whistling appearance, Pierre-Robin sequence, Bradycardia, Arthrogryposis multiplex co...	OMIM:208155
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul...	ORPHA:73224
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Diastasis recti, Rhabdomyosarcoma, Congenital diaphra...	ORPHA:116
Isolated Thyroid-Stimulating Hormone Deficiency	Facial edema, Delayed proximal femoral epiphyseal ossification, Macroglossia, Bradycardia, Abnorm...	ORPHA:90674
Chromosome 17P13.1 Deletion Syndrome	Short palm, Hallux valgus, Arachnodactyly, Broad hallux, Spina bifida, Proximal placement of thum...	OMIM:613776
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Angina pectoris, Splenomegal...	ORPHA:565612
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Thin upper lip vermilion, Tricuspid regurgitation, Dextrocardia, Coarctation of aorta, Sprengel a...	OMIM:618929
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft palate, Cleft upper lip	OMIM:137215
Dpagt1-Cdg	Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Lipodystrophy, Arachnodactyly...	ORPHA:86309
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Dental crowding, Arachnodactyly, Myocardial infarction, Pectus excavatum, Mitral...	OMIM:236200
Congenital Muscular Dystrophy With Intellectual Disability	Abnormal pons morphology, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:370968
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Cleft palate, Short 5th fing...	OMIM:615583
Charge Syndrome	Micrognathia, Secundum atrial septal defect, Hand monodactyly, Holoprosencephaly, Atrial septal d...	OMIM:214800
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated hepatic transaminase, Death in infancy, Congestive heart failure, Left ventricular hyper...	OMIM:619355
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Bohring-Opitz Syndrome	Bilateral cleft palate, Ventricular septal defect, Micrognathia, Mesomelic/rhizomelic limb shorte...	OMIM:605039
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Lower limb spasticity, Optic disc pallor, Akinesia, Optic neuropathy, Abnorma...	OMIM:618249
Nephrotic Syndrome, Type 22	Generalized edema	OMIM:619155
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Split hand/foot malformation 1 (SHFM1)	Median cleft lip, Cleft palate	DECIPHER:46
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Cleft palate, Cleft upper lip	OMIM:611561
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Overlapping toe, Deep philtrum, Patent ductus arteriosus, Abnormal ven...	ORPHA:163956
Ataxia-Telangiectasia-Like Disorder 2	Joint contracture, Congenital diaphragmatic hernia	OMIM:615919
Nephronophthisis 16	Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ...	OMIM:615382
Dural Sinus Malformation	Papilledema, Somatic sensory dysfunction, Ataxia, Parkinsonism, Abnormal cerebellum morphology, M...	ORPHA:97339
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Thin upper lip vermilion, Tented upper lip vermilion, Facial hypotonia, Diastasis recti, High pal...	OMIM:616579
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy,...	ORPHA:70595
Loeys-Dietz Syndrome 5	Decreased muscle mass, Tented upper lip vermilion, Pectus carinatum, High palate, Bilateral coxa ...	OMIM:615582
Caudal Duplication	Omphalocele	ORPHA:1756
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Camptodactyly of finger, Micrognathia, Non-midline cleft lip, Hypoplasia ...	ORPHA:246
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin...	ORPHA:335
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequ...	OMIM:619980
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites, P...	ORPHA:538
Williams Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Myocardial infarction...	ORPHA:904
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P...	ORPHA:392
Lessel-Kreienkamp Syndrome	Bicuspid aortic valve, Aggressive behavior, Patent ductus arteriosus, Pulmonic stenosis, Attentio...	OMIM:619149
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pulmonary arterial hypertension, Ventriculomegaly, Increased CSF lactate	OMIM:619059
Alstrom Syndrome	Cone/cone-rod dystrophy, Hepatomegaly, Elevated hepatic transaminase, Chronic active hepatitis, C...	OMIM:203800
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor...	ORPHA:363618
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect, Micrognathia, Carious teeth, Patent ductus arteriosus, Velopharyngeal ...	OMIM:613680
Noonan Syndrome 14	Aortic regurgitation, Hypertrophic cardiomyopathy, Lateral ventricle dilatation, Pulmonic stenosis	OMIM:619745
Joint Laxity, Short Stature, And Myopia	Umbilical hernia, Inguinal hernia, Pectus carinatum	OMIM:617662
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio...	ORPHA:2306
Crouzon Syndrome	Hydrocephalus, Chiari malformation, Optic atrophy, Cerebellar hypoplasia	ORPHA:207
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc...	ORPHA:2331
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Periphe...	OMIM:606002
Williams-Beuren Region Duplication Syndrome	Speech apraxia, Cerebellar vermis hypoplasia, Hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:609757
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Abnormal retinal art...	ORPHA:51608
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Situs ...	OMIM:615415
X-Linked Intellectual Disability, Cantagrel Type	Ventriculomegaly	ORPHA:85277
Enlarged Parietal Foramina	Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Short clavicles, Abnormal cer...	ORPHA:60015
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Congestive heart failure, Abnormal fear-induced beh...	ORPHA:3077
Gapo Syndrome	Delayed eruption of teeth, Abnormal clavicle morphology, Palpebral edema, Abnormal cerebral vascu...	ORPHA:2067
Maternal Hyperthermia-Induced Birth Defects	Hypertonia, Abnormality of neuronal migration	ORPHA:2216
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Inability to walk, Abnormal cerebe...	ORPHA:2356
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper...	OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
22Q11.2 Deletion Syndrome	Polyhydramnios, Abnormal aortic arch morphology, Short philtrum, Atrial septal defect, Arachnodac...	ORPHA:567
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Abnormality o...	OMIM:608836
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Pulmonary embolism, Facial edema, Pedal edema, Hypertension, Anasarca, Pl...	ORPHA:567546
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Omphalocele, Pancreatic fibrosis, Postaxial hand polydactyly, Hy...	OMIM:200995
Vici Syndrome	Hypoplasia of the pons, Optic atrophy, Cardiomyopathy, Gray matter heterotopia, Cerebellar hypopl...	ORPHA:1493
Mucopolysaccharidosis Type 2	Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morpholo...	ORPHA:580
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Iniencephaly	Encephalocele, Omphalocele, Rocker bottom foot, Congenital diaphragmatic hernia, Spina bifida, Po...	ORPHA:63259
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep p...	OMIM:619143
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Lateral ventricle dilatation, Abnormal substantia nigra morphology, Orthost...	ORPHA:2822
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Aortic dissection, ...	ORPHA:397
Hsd10 Disease, Infantile Type	Restlessness, Cardiomegaly, Optic atrophy, Increased CSF lactate, Dysphagia, Hypertrophic cardiom...	ORPHA:391428
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pectus excavatum, Umbilical hernia, Inguinal hernia	OMIM:618272
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, S...	OMIM:615895
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Cleft upper lip, High, narrow palate, Cleft palate, Short foot, Ethmoidal encephalocele	OMIM:607597
Down Syndrome	Aganglionic megacolon, Sandal gap, Protruding tongue, Abnormality of the dentition, Thick lower l...	ORPHA:870
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Spina bifida, Cleft upper lip, Meningocele, Cl...	ORPHA:894
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ...	ORPHA:1071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Agyria, Optic nerve hypoplasia, Type II lissencephaly,...	OMIM:236670
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cleft palate, Median cleft lip, Holoprosencephaly, Abnormal cerebral vascular morphology	ORPHA:2165
Acrofacial Dysostosis, Palagonia Type	Micrognathia, High, narrow palate, Supernumerary tooth, Small hand, Oligodontia, Unilateral cleft...	ORPHA:1787
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Polyhydramnios, Coarctation of aorta	ORPHA:1923
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Cleft upper lip, Cleft palate, Malar flattening, Spina bifida occulta	OMIM:268850
Leukodystrophy, Hypomyelinating, 24	Ventriculomegaly	OMIM:619851
Osteogenesis Imperfecta	Abnormality of dental color, Abnormal tibia morphology, Flexion contracture, Abnormal femur morph...	ORPHA:666
Marfan Syndrome	Decreased muscle mass, Dental crowding, Bicuspid aortic valve, Equinus calcaneus, Incisional hern...	OMIM:154700
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl...	OMIM:137440
Classical Ehlers-Danlos Syndrome	Incisional hernia, Rectal prolapse, Shoulder dislocation, Ecchymosis, Dislocated radial head, Pro...	ORPHA:287
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy	OMIM:608068
Pontocerebellar Hypoplasia, Type 16	Hypoplasia of the pons, Cerebellar hypoplasia, Ventriculomegaly	OMIM:619527
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Ventriculomegaly	ORPHA:1495
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hernia,...	OMIM:157800
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Cerebral palsy, Ataxia, Abnormal neuron morphology, Abnormality of neurona...	ORPHA:163681
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Prominent fingertip pads, Tachycardia, Tapered finger, High, narrow palate, 2-3 to...	ORPHA:485405
Spinocerebellar Ataxia 27A	Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia	OMIM:193003
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left ventricular hypertrophy, Left atrial...	OMIM:300280
Plasminogen Deficiency, Type I	Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Shor...	OMIM:225500
Pierpont Syndrome	Chiari malformation, Abnormal cortical gyration, Ventriculomegaly	ORPHA:487825
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Tetraplegia, O...	OMIM:616267
C Syndrome	Omphalocele, Toe syndactyly, Accessory oral frenulum, Congenital diaphragmatic hernia, Pectus exc...	ORPHA:1308
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul...	OMIM:617201
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Jejunoileal ulcer...	ORPHA:436252
Mucopolysaccharidosis Type 3	Hepatomegaly, Inguinal hernia, Abnormal clavicle morphology, Abnormality of the dentition, Malabs...	ORPHA:581
Friedreich Ataxia	Abnormal EKG, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyopathy, Decreased sen...	OMIM:229300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Encephalocele, Abnormal pulmonary valve morphology, Portal hypertens...	ORPHA:974
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Inguinal hernia, Broad hallux, Polyhydramnios, Protruding tongue, Abnor...	OMIM:617062
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly	OMIM:614195
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Wide mouth, Macroglossia, Shor...	OMIM:615668
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Dental crowding, Internally rotated shoulders, Fetal asc...	OMIM:619503
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Increased CSF lactate, Pulmonary ...	OMIM:619051
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Polyhydramnio...	OMIM:235255
Pai Syndrome	Encephalocele, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula	ORPHA:1993
Dent Disease 2	Increased circulating lactate dehydrogenase concentration, Umbilical hernia, Elevated circulating...	OMIM:300555
Crome Syndrome	Cerebellar dysplasia	OMIM:218900
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Combined Oxidative Phosphorylation Deficiency 39	Cerebellar atrophy, Simplified gyral pattern, Sinus bradycardia, Increased CSF lactate, Pachygyri...	OMIM:618397
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Hydroc...	ORPHA:1454
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Tapered finger, Cleft lip, Hip dislocation, Cleft palate, Hepatosplenomegaly, Genu ...	OMIM:301066
Sepsis In Premature Infants	Abnormal bleeding, Hepatomegaly, Tachycardia, Edema, Splenomegaly, Jaundice, Enterocolitis, Brady...	ORPHA:90051
Meckel Syndrome 13	Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia	OMIM:617562
Oculomaxillofacial Dysostosis	Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Cleft palate	ORPHA:1794
Myoectodermal Gonadal Dysgenesis Syndrome	Smooth philtrum, Accessory spleen, Omphalocele, Short palm, Diastasis recti, Bifid distal phalanx...	OMIM:618419
Arthrogryposis Multiplex Congenita 5	11 pairs of ribs, Inguinal hernia, Cardiac arrest, Rocker bottom foot, Polyhydramnios, Flexion co...	OMIM:618947
Orofaciodigital Syndrome Type 2	Micrognathia, Central retinal vessel vascular tortuosity, High palate, Short tibia, Atrioventricu...	ORPHA:2751
15Q14 Microdeletion Syndrome	Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philtrum, Long philt...	ORPHA:261190
Trisomy 20P	Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Spina bifida, Abnormality of the den...	ORPHA:261318
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Inguinal hernia, Frontal open bite, Short toe, Gingival overgrowth, Gingival hyperkeratosis, Atro...	OMIM:225410
Multiple Mitochondrial Dysfunctions Syndrome 3	Increased CSF glycine concentration, Polymicrogyria, Ventriculomegaly, Increased CSF lactate	OMIM:615330
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat...	OMIM:180700
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,...	OMIM:613686
Adams-Oliver Syndrome 6	Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension	OMIM:616589
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ventricular septal defect, Spastic tetraple...	OMIM:620024
Aicardi-Goutieres Syndrome 7	Edema, Pericardial effusion, Hematemesis, Vasculitis, Oligohydramnios, Hematochezia, Hypertension...	OMIM:615846
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Macroglossia, Abnormal repetitive mannerisms, Perimembranous ventricular septal defect, Ventricul...	OMIM:301040
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Colp...	OMIM:618619
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary arter...	OMIM:100300
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:166024
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal ...	ORPHA:98908
Contractural Arachnodactyly, Congenital	Bicuspid aortic valve, Knee flexion contracture, Pectus carinatum, High palate, Atrial septal def...	OMIM:121050
Keratoconus Posticus Circumscriptus	Cleft palate, Cleft upper lip	OMIM:244600
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Thick lower lip vermilion...	OMIM:618950
Anophthalmia Plus Syndrome	Cleft palate, Non-midline cleft lip, Spina bifida, Bilateral cleft lip and palate	ORPHA:1104
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Choroid plexus cyst	ORPHA:293725
5Q14.3 Microdeletion Syndrome	Agenesis of cerebellar vermis, Ventriculomegaly	ORPHA:228384
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:35
20P12.3 Microdeletion Syndrome	Wolff-Parkinson-White syndrome, Ventriculomegaly	ORPHA:261295
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot, Abnormal palate morphology	ORPHA:1381
Gm1-Gangliosidosis, Type Iii	Ventriculomegaly	OMIM:230650
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of t...	ORPHA:171
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Abnormality of the pancreas, Cleft palate, Narrow palate, Anteriorly placed anus, Hypertension, T...	ORPHA:1555
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Limb joint contracture, Bradycardia	OMIM:619814
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft upper lip, Cleft palate, Micrognathia	OMIM:601076
Diamond-Blackfan Anemia 1	11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Micrognathia, Absent thumb, Shor...	OMIM:105650
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Intestinal obstruction,...	ORPHA:183
Familial Visceral Myopathy	Aganglionic megacolon, Camptodactyly of finger, Arachnodactyly, Aplasia/Hypoplasia of the abdomin...	ORPHA:2604
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus, Optic nerve hypoplasia	OMIM:620157
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Aganglionic megacolon, Ventricular septal defect, Aspl...	ORPHA:210122
Joubert Syndrome 25	Molar tooth sign on MRI, Cerebellar hypoplasia	OMIM:616781
16Q24.3 Microdeletion Syndrome	Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect, Periventricular heterotopia	ORPHA:261250
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Ventriculomegaly	OMIM:617290
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar atrophy, Lateral ventricle dilatation, Cerebellar vermis hypoplasia	OMIM:611209
Sneddon Syndrome	Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke	OMIM:182410
Mehmo Syndrome	Decreased response to growth hormone stimulation test, Ventriculomegaly	OMIM:300148
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Inguinal hernia, Cleft soft palate, Secundum atrial septal defect, Incr...	OMIM:620183
Microcephalic Primordial Dwarfism, Toriello Type	Ventriculomegaly	ORPHA:2643
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Rayna...	ORPHA:3260
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Ventriculomegaly, Retinal ...	OMIM:619074
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Abnormal fe...	ORPHA:324
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula	ORPHA:2736
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Malabsorption, Periorbital edema, Congestiv...	ORPHA:33226
Tyshchenko Syndrome	Ventricular septal defect, Polyhydramnios, Pectus excavatum, High, narrow palate, Narrow palate, ...	OMIM:615102
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, H...	OMIM:619775
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cleft upper lip, Patent ductus arteriosus, Hypo...	OMIM:610443
Loeys-Dietz Syndrome 4	Torticollis, Inguinal hernia, Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of...	OMIM:614816
Distal Deletion 10P	Non-midline cleft lip, Cleft palate, Micrognathia	ORPHA:1580
Pontocerebellar Hypoplasia, Type 9	Hypoplasia of the pons, Cerebellar hypoplasia, Ventriculomegaly	OMIM:615809
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Exercise-induced rhabdomyolysis, Death in infancy, Sudden cardiac death, Cardiomega...	OMIM:201475
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en...	ORPHA:95459
Atelis Syndrome 1	Ventricular septal defect, Carious teeth, High palate, Long philtrum, Atrial septal defect	OMIM:620184
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Thick lower lip ve...	OMIM:220500
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Transient ischemic attack, Abnormal femoral head morphology, Cong...	ORPHA:1830
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Dextrocardia, Edema, Abnormality of the dentition, Malabsorption, Abno...	ORPHA:2315
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Werner Syndrome	Skeletal muscle atrophy, Telangiectasia of the skin, Lipodystrophy, Myocardial infarction, Abnorm...	ORPHA:902
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Micrognathia, Absent thumb, Short thumb, Patent ductus arteriosus, Tru...	OMIM:617516
Agnathia-Otocephaly Complex	Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Holo...	OMIM:202650
Woods Syndrome	Ventricular septal defect	OMIM:615236
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Patent ductus arteriosus, Oligodontia, Abnormal metacarpal morpholo...	ORPHA:2095
Primary Pulmonary Hypoplasia	Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atrial septal defect, Cleft palate, Pat...	ORPHA:2257
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Cleft palate, Spina bifida	ORPHA:2345
Non-Functioning Paraganglioma	Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Cranial nerve compressio...	ORPHA:94080
Spastic Paraplegia 47, Autosomal Recessive	Ventriculomegaly	OMIM:614066
Hennekam Syndrome	Camptodactyly of finger, Lymphedema, Pericardial effusion, Pulmonary lymphangiectasia, Hydrops fe...	ORPHA:2136
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Polyhydramnios, Anteriorly placed anus, Glossoptosis, High palate, Cl...	OMIM:117650
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger...	ORPHA:464
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Decreased beta-galactosidase activ...	OMIM:253010
Galloway-Mowat Syndrome	Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration	ORPHA:2065
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Inguinal hernia, Club-shaped proximal femur, Brachydactyly, Anterior rib cupping, Clinodactyly, H...	OMIM:184250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Left ventricular systolic dysfunction, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Ventr...	OMIM:613156
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great arteries, Open ...	OMIM:616789
Pontocerebellar Hypoplasia, Type 2B	Cerebellar atrophy, Cerebellar vermis hypoplasia, Simplified gyral pattern, Hypoplasia of the bra...	OMIM:612389
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h...	OMIM:252920
Noonan Syndrome 9	Prolonged prothrombin time, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Hypoglossia With Situs Inversus	Micrognathia, Situs inversus totalis, High palate, Hypodontia, Narrow mouth, Microglossia	OMIM:612776
Distal Deletion 10Q	Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Spina bifida occulta, Cerebe...	ORPHA:96148
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Pectus excavatum...	ORPHA:77301
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Cardiomegaly, Hydrocephalus, Abnormality of neuronal migration, Car...	ORPHA:228308
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect, Polyhydramnios	ORPHA:2256
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ...	ORPHA:861
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalized am...	ORPHA:66634
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Cardiomyopathy, P...	ORPHA:157
Chromosome 19P13.13 Deletion Syndrome	Chiari type I malformation, Ventriculomegaly	OMIM:613638
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Ventriculomegaly	ORPHA:457260
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hypertension, Elevated circulating ...	OMIM:613095
Mitochondrial Complex I Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Ventriculomegaly	OMIM:618228
Prune Belly Syndrome	Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Pectus excavatum, ...	ORPHA:2970
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Abnormal retinal vascular morphology, Conge...	ORPHA:727
Hsd10 Disease	Ventriculomegaly	ORPHA:391417
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:203700
Thyroid Dyshormonogenesis 1	Macroglossia, Umbilical hernia	OMIM:274400
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Abnormal zygomatic bone morphology, Unilateral cleft lip, Short palm, Mala...	ORPHA:2511
Histidinuria-Renal Tubular Defect Syndrome	Ventriculomegaly	ORPHA:2158
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, C...	OMIM:130650
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus...	OMIM:252100
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund...	ORPHA:268
Arachnoiditis	Hydrocephalus	ORPHA:137817
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly	ORPHA:77298
X-Linked Lissencephaly With Abnormal Genitalia	Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:452
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ...	ORPHA:2521
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, Hypoplasia of...	OMIM:309520
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Dilated fourth ventricle, Optic disc pallor, Optic nerve hypoplasia, Hypoplasia of the pons, Simp...	OMIM:300749
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Hypertonia, Chi...	ORPHA:268810
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Cleft upper lip	OMIM:216100
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Thin upper lip vermilion, Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Spl...	OMIM:610199
Dominant Beta-Thalassemia	Bowing of the long bones, Hypoplasia of the musculature, Abnormality of the dentition, Hypersplen...	ORPHA:231226
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Congestive heart failure, Jaund...	ORPHA:525731
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomeningocele, Hypoplastic ao...	ORPHA:2876
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Micrognathi...	ORPHA:819
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum, Ventriculomegaly, Alobar holoprosencephaly	OMIM:615433
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Cerebral palsy, Ataxia, Periventricular heterotopia, Hydrocephalus, Optic atrophy, Colpocephaly, ...	OMIM:619833
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Atrial Septal Defect 9	Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve	OMIM:614475
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Hydrocephalus, Cerebellar hypoplasia, Subvalvular aortic stenosis, Atr...	OMIM:613001
Intellectual Developmental Disorder, Autosomal Recessive 41	Ventriculomegaly	OMIM:615637
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Carious teeth, Cleft...	ORPHA:3253
Scarf Syndrome	Barrel-shaped chest, Inguinal hernia, Diastasis recti, Pectus carinatum, Short sternum, Long phil...	OMIM:312830
Hamamy Syndrome	Thin upper lip vermilion, Micrognathia, Complete atrioventricular canal defect, Dental malocclusi...	OMIM:611174
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Agenesi...	ORPHA:459061
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Hypertonia, Ataxia	ORPHA:2720
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Malabsorption, Carious teeth, Congestive heart failure, Flexion contr...	ORPHA:220393
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Temple Syndrome	Hydrocephalus, Decreased response to growth hormone stimulation test	ORPHA:254516
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Hepatomegaly, Atrial septal defect, Decreased methionine synthase activ...	OMIM:277380
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Ataxia, Dysplastic corpus callosum, Abnormal heart morphology, Gray...	ORPHA:314679
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Noncompaction cardiomyopathy, Short metacarpal, Tricuspid regurgitatio...	ORPHA:508542
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Cerebellar hypoplasia, Ventriculomegaly	OMIM:619556
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Ataxia, Oculomoto...	OMIM:608091
Hajdu-Cheney Syndrome	Inguinal hernia, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Den...	OMIM:102500
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucen...	OMIM:618870
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Cleft hard palate, Delayed epiphyseal ossification, Fragment...	ORPHA:166016
Myhre Syndrome	Short palm, Inguinal hernia, Brachydactyly, Femoral hernia, Submucous cleft hard palate, Abnormal...	ORPHA:2588
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:98896
Hogue-Janssen Syndrome 2	Inability to walk, Hydrocephalus, Gait ataxia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:616362
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Umbilical hernia, Inguinal hernia	ORPHA:2196
Rubinstein-Taybi Syndrome 1	Accessory spleen, Hyperactivity, Ventricular septal defect, Spina bifida, Impulsivity, Patent duc...	OMIM:180849
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis...	OMIM:608594
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Cerebellar dysplasia	ORPHA:457240
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Rhabdomyolys...	ORPHA:449285
Joubert Syndrome 10	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:300804
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp...	OMIM:139210
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Thanatophoric Dysplasia, Type Ii	Neonatal death, Cerebellar hypoplasia, Ventriculomegaly	OMIM:187601
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Coarctation ...	OMIM:618494
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Joubert Syndrome 4	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th...	OMIM:609583
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, Atrial septa...	OMIM:136140
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Micrognathia, Cleft upper lip, Dilated cardiomyopa...	OMIM:242840
Scorpion Envenomation	Bundle branch block, Tachycardia, Acute pancreatitis, Increased circulating lactate dehydrogenase...	ORPHA:466677
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Arrhythmia, Abnormal aortic morphology, Hypertension	ORPHA:3222
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Telangiectasia of the skin, Abnormality of the dentition, Thick lower lip vermilion, Dental maloc...	ORPHA:85321
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Micrognathia, Unilateral radial aplasia, Complete atrioventricular canal defect,...	ORPHA:476126
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis...	OMIM:269700
Thanatophoric Dysplasia Type 1	Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosus, Hydrocephalus, Atrial se...	ORPHA:1860
Cranioectodermal Dysplasia 2	Cholangitis, Polyhydramnios, Hydrops fetalis, Fused teeth, High palate, Widely spaced teeth, Narr...	OMIM:613610
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o...	OMIM:177850
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Hydrops fetalis, Fused teeth, High palate, Hepatic fibrosis, Narrow chest...	OMIM:614091
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, High, narrow palate, Anterio...	OMIM:612289
Verloove Vanhorick-Brubakk Syndrome	Limb undergrowth, Non-midline cleft lip, Cleft palate, Micrognathia	ORPHA:3429
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Lipoatrophy, Tooth agenesis, Everted lower lip vermilion, Um...	ORPHA:2963
Beck-Fahrner Syndrome	Ventricular septal defect, Facial hypotonia, Cardiomegaly, Extra-axial cerebrospinal fluid accumu...	OMIM:618798
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Glossopharyngeal Neuralgia	Vascular dilatation, Jaw claudication, Syncope, Bradycardia, Tongue pain, Abnormal palate morphology	ORPHA:221098
Desmosterolosis	Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal migration, Macrogyria, Lissenc...	ORPHA:35107
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardio...	ORPHA:254892
1P31P32 Microdeletion Syndrome	Chiari type I malformation, Intraventricular hemorrhage, Ventriculomegaly	ORPHA:401986
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Ventricular septal defect, Oligohydramnios, Dehydration, Atrial septal defect,...	OMIM:208085
Pontocerebellar Hypoplasia, Type 17	Cerebellar vermis hypoplasia, Ventricular septal defect, Secundum atrial septal defect, Hypoplasi...	OMIM:619909
Fanconi Anemia, Complementation Group B	Death in infancy, Ventricular septal defect, Optic disc hypoplasia, Patent ductus arteriosus, Hyd...	OMIM:300514
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Deep philtrum, Cleft palate, A...	ORPHA:404440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Pachygyria, Ventriculomegaly, Cerebellar cyst	OMIM:606612
Chédiak-Higashi Syndrome	Abnormal bleeding, Epistaxis, Edema, Pericardial effusion, Gingival bleeding, Pleural effusion, B...	ORPHA:167
Autosomal Dominant Robinow Syndrome	High, narrow palate, Abnormality of the gingiva, Coxa vara, Pectus carinatum, Downturned corners ...	ORPHA:3107
Marden-Walker Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Camptodactyly of finger, Dextrocardia, Arachn...	ORPHA:2461
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Inguinal hernia, Short thorax, Abnormal femoral epiphysis morphology, Umbilical hernia, Brachydac...	ORPHA:3218
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Dextrocardia, Situs inversus totalis	OMIM:618948
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Brachydactyly, Type B1	Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the ...	OMIM:113000
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida, Lissencephaly, Agenesis of corpus callosum, Ventricul...	ORPHA:99742
D-Glyceric Aciduria	Patent ductus arteriosus, Reduced hepatic D-glycerate kinase activity, Bradycardia	OMIM:220120
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Atrial septal defect, Dandy-Walker malformation, Hepa...	OMIM:208540
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation	ORPHA:457279
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Extra-axial cerebrospinal fluid accumulation, Atrial septal defect, Pa...	OMIM:614261
Orofaciodigital Syndrome Ix	Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palate, High palat...	OMIM:258865
Intellectual Developmental Disorder, Autosomal Dominant 47	Increased nuchal translucency, Ventricular septal defect	OMIM:617635
Monosomy 9P	Congenital diaphragmatic hernia, Abnormality of the dentition, Proximal placement of thumb, Abnor...	ORPHA:261112
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pachygyria, Tricuspid regurgitation, Lateral ventricle dilatation, Cerebellar vermis hypoplasia	OMIM:263520
Peters-Plus Syndrome	Short lingual frenulum, Bilobate gallbladder, Proximal placement of thumb, Polyhydramnios, Short ...	OMIM:261540
Larsen Syndrome	Short metacarpal, Ventricular septal defect, Cleft upper lip, Short metatarsal, Cleft palate, Hyp...	OMIM:150250
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Bilateral cleft lip	OMIM:616994
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Conical incisor, Narrow chest, Atrial septal defect, Microdontia...	ORPHA:289
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Hereditary Hyperekplexia	Hiatus hernia, Hip dislocation, Hernia, Esophagitis, Umbilical hernia	ORPHA:3197
Joubert Syndrome 15	Exencephaly	OMIM:614464
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Pulmonic stenosis, Camptodactyl...	OMIM:619123
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Cardiomegaly, Eruption failure, Muscle fiber atrophy, Expand...	OMIM:182250
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Congestive heart failure, Mitra...	OMIM:123700
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Bicuspid aortic valve	OMIM:617744
Den Hoed-De Boer-Voisin Syndrome	Lateral ventricle dilatation, Ventriculomegaly	OMIM:619229
Long Qt Syndrome 8	Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo...	OMIM:618447
Cryoglobulinemia, Familial Mixed	Hypertension, Anasarca	OMIM:123550
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar...	OMIM:612474
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Scapular winging, Ventricular septal defect, Dental crowding, Micrognat...	OMIM:617061
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of the pons, Cerebellar hemis...	OMIM:618325
Goldberg-Shprintzen Megacolon Syndrome	Pachygyria, Ventriculomegaly	ORPHA:66629
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Fibular hypoplasia,...	OMIM:164745
Insulin-Like Growth Factor I, Resistance To	Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Narrow mouth, Small hand, Shor...	OMIM:270450
B4Galt1-Cdg	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:79332
Ververi-Brady Syndrome	Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ...	OMIM:617982
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Short metacarpal, Ventricular septal defect, Thin ...	OMIM:616651
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Downturned corners of mouth, Widely...	ORPHA:199
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Agenesis of corpus callosum, Ventriculomegaly	OMIM:618603
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Cardiomegaly, Adipose tissue loss, Flexion contracture, Loss of facial a...	OMIM:256040
Bartsocas-Papas Syndrome	Median cleft lip, Aplasia/Hypoplasia of the distal phalanges of the toes, Absent thumb, Micrognat...	ORPHA:1234
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Protein...	OMIM:619991
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Edema of the dorsum of feet, Congenital d...	OMIM:601803
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Lissencephaly Due To Lis1 Mutation	Ventriculomegaly, Cerebellar vermis hypoplasia, Anterior predominant thick cortex pachygyria, Pac...	ORPHA:95232
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h...	OMIM:619306
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of...	ORPHA:1425
Stiff Skin Syndrome	Elbow flexion contracture, Bicuspid aortic valve, Camptodactyly, Knee flexion contracture	OMIM:184900
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Congenital Disorder Of Glycosylation, Type Iih	Cerebellar atrophy, Ventriculomegaly	OMIM:611182
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodon...	ORPHA:286
Narp Syndrome	Ventriculomegaly	ORPHA:644
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Abnormal circulating enzyme concentration or activity, Thickened ribs, Faci...	ORPHA:309282
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root aneury...	OMIM:619825
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Kapur-Toriello Syndrome	Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Pachygyria, Polymicrogyria	ORPHA:2328
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, ...	ORPHA:798
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular...	OMIM:617168
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Oral ulcer, Pectus carinatum, High palate, Hepatomegaly, Perianal ...	OMIM:612541
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip	OMIM:614402
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Cleft upper lip, Asplenia, Cleft palate, Gastroschisis, Hypoplas...	OMIM:273395
Cerebrocostomandibular Syndrome	Ventricular septal defect, Spina bifida, Micrognathia, Myelomeningocele, Meningocele, Cleft palat...	ORPHA:1393
Beta-Thalassemia Major	Hepatomegaly, Bowing of the long bones, Hypoplasia of the musculature, Abnormality of the dentiti...	ORPHA:231214
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Inguinal hernia, Aganglionic megacolon, Postaxial hand polydactyly, Hip dislocation,...	OMIM:308205
Schuurs-Hoeijmakers Syndrome	Bicuspid aortic valve, Aggressive behavior, Patent ductus arteriosus, Abnormal cardiac septum mor...	OMIM:615009
Aarskog-Scott Syndrome	Cleft upper lip, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Cleft palate, Cur...	OMIM:305400
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Roifman-Chitayat Syndrome	Short metacarpal, Thin lower lip vermilion, Short metatarsal, Cone-shaped epiphysis, Umbilical he...	OMIM:613328
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: m...	OMIM:164310
Cardiospondylocarpofacial Syndrome	Brachydactyly, High, narrow palate, Mitral valve prolapse, Mitral regurgitation, Short palm, Fail...	ORPHA:3238
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Heart murmur, Stroke, Bacterial endocarditis, Dil...	ORPHA:1054
Coffin-Lowry Syndrome	Abnormal mitral valve morphology, Optic atrophy, Abnormality of neuronal migration, Hypertonia, G...	ORPHA:192
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop...	ORPHA:682
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Optic atrophy, Cerebellar hypopl...	OMIM:618590
Transaldolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Coarctation of aorta, Wide mo...	OMIM:606003
Cornelia De Lange Syndrome 2	Hypertrophic cardiomyopathy, Ventriculomegaly	OMIM:300590
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Abnormality of neuronal migration	ORPHA:2204
Short Stature, Microcephaly, And Endocrine Dysfunction	Dilated cardiomyopathy, Simplified gyral pattern, Cerebellar vermis atrophy	OMIM:616541
Neu-Laxova Syndrome	Ventriculomegaly, Abnormal cortical gyration, Spina bifida, Polymicrogyria, Abnormality of neuron...	ORPHA:2671
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia...	ORPHA:119
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele	ORPHA:1914
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Abs...	OMIM:176670
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He...	ORPHA:402075
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom...	OMIM:619542
Blepharonasofacial Malformation Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate, Long philtrum	ORPHA:1252
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Inguinal hernia, Submucous cleft hard palate, Flexion contracture, Epiphyseal stip...	OMIM:222765
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Myocardial infarction, Raynaud phenom...	ORPHA:91139
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Turnpenny-Fry Syndrome	Dental crowding, Polyhydramnios, Prominent interphalangeal joints, Downturned corners of mouth, P...	OMIM:618371
Genetic Transient Congenital Hypothyroidism	Macroglossia, Umbilical hernia, Edema, Prolonged neonatal jaundice	ORPHA:226316
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Dis...	ORPHA:42
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Inguinal hernia, Femoral hernia, Protruding tongue, Conotruncal defect, Coa...	ORPHA:96147
Keutel Syndrome	Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:85202
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Cleft palate, Cleft upper lip	OMIM:607371
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Odontogenic keratocysts of the jaw, Spina bifida, Cleft upper lip, Hydroce...	OMIM:109400
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Tooth agenesis, Non-midline cleft lip, Meningocele, Bilateral cleft lip and palate	ORPHA:2003
Fanconi Anemia, Complementation Group W	Chiari malformation, Decreased response to growth hormone stimulation test, Ventriculomegaly	OMIM:617784
Nicolaides-Baraitser Syndrome	Short lingual frenulum, High, narrow palate, Short metatarsal, Prominent interphalangeal joints, ...	OMIM:601358
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Ventriculomegaly	OMIM:619797
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Patent ductus arterios...	OMIM:616564
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Congestive heart f...	OMIM:617403
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Glycosuria	OMIM:618857
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Dila...	ORPHA:2556
Triosephosphate Isomerase Deficiency	Optic disc pallor, Skeletal muscle atrophy, Death in infancy, Splenomegaly, Jaundice, Congestive ...	OMIM:615512
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Umbilical hernia, Prolonged neonatal jaundice	ORPHA:95715
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Ventriculomegaly	OMIM:617268
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
47,Xyy Syndrome	Dysgenesis of the cerebellar vermis, Hydrocephalus, Cerebellar dysplasia	ORPHA:8
1Q44 Microdeletion Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly	ORPHA:238769
Methylcobalamin Deficiency Type Cble	Hypertension, Hydrocephalus, Ventriculomegaly, Hypoplasia of the brainstem	ORPHA:2169
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Premature loss of teeth, Cleft palate, ...	OMIM:164200
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Aortic root aneurysm, Short philtrum, Camptodactyly, Atrial septal def...	OMIM:301039
Cog8-Cdg	Cerebellar atrophy, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem	ORPHA:95428
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congest...	ORPHA:423
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure, Cutaneous angiolipomas, Spinal arteriovenous malformation, Arteriovenou...	ORPHA:53721
Pyridoxine-Dependent Epilepsy	Ventriculomegaly	ORPHA:3006
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera...	OMIM:608670
Inverted Duplicated Chromosome 15 Syndrome	High palate, Tetralogy of Fallot, Ventricular septal defect, Short philtrum	ORPHA:3306
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Overlapping toe, Deep philt...	OMIM:613884
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Severe periodontitis, Scarring, Overlapping toe, Protruding tongue, Palpebral edema...	ORPHA:99843
Tolchin-Le Caignec Syndrome	Arachnodactyly, Diastasis recti, Submucous cleft hard palate, Cardiac rhabdomyoma, High palate, N...	OMIM:618971
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, S...	OMIM:192445
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High palate, Everted lo...	ORPHA:1784
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Whipple Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Myocarditis, Hydrocep...	ORPHA:3452
Christianson Syndrome	Aplasia/Hypoplasia of the cerebellum, Cerebellar atrophy, Ventriculomegaly	ORPHA:85278
Congenital Rubella Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:290
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ventriculomegaly	ORPHA:48431
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Inguinal hernia, Con...	ORPHA:90349
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Facial edema, Delayed proximal femoral epiphyseal ossification, Macroglossia, Hand polydactyly, B...	ORPHA:226307
Pyruvate Dehydrogenase E1-Alpha Deficiency	Agenesis of corpus callosum, Ventriculomegaly, Increased CSF lactate	OMIM:312170
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Rahman Syndrome	Ventriculomegaly	OMIM:617537
6Q25 Microdeletion Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:251056
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Unilateral cleft palate, Thoracolumbar kyphoscoliosis, Abnormal...	ORPHA:1299
Multiple Pterygium Syndrome, Lethal Type	Edema, Polyhydramnios, Flexion contracture, Cleft palate, Thin ribs, Amyoplasia, Hypoplastic hear...	OMIM:253290
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Thick lower lip vermi...	OMIM:618027
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Polymicrogyria, Cerebellar vermis atrophy, Simplified gyral pattern, Ventriculomegaly	OMIM:300354
Frontometaphyseal Dysplasia 1	Carpal synostosis, Skeletal muscle atrophy, Selective tooth agenesis, Knee flexion contracture, I...	OMIM:305620
Bainbridge-Ropers Syndrome	Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation	OMIM:615485
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Short long b...	OMIM:619184
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Hydrocep...	OMIM:210710
Microcephaly 29, Primary, Autosomal Recessive	Enlarged cerebellum, Simplified gyral pattern, Ataxia	OMIM:620047
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy	OMIM:618321
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ...	ORPHA:758
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Proximal placement of thumb, Clinodactyly of the 5th toe, Patent ductu...	OMIM:620113
Lethal Acantholytic Erosive Disorder	Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Impaired m...	ORPHA:158687
Warsaw Breakage Syndrome	Wide mouth, High palate, Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Intracranial ...	ORPHA:91350
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart...	ORPHA:506
Amme Complex	Thin upper lip vermilion, Inguinal hernia, Sandal gap, Diastasis recti, Clinodactyly of the 2nd t...	OMIM:300194
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Everted lower lip vermilion, Long philtrum,...	ORPHA:75389
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Carious teeth, Cleft upper lip, Velopharyngeal insuffic...	OMIM:129400
Gapo Syndrome	Hepatomegaly, Prominent scalp veins, Facial palsy, Retinal arteriolar tortuosity, High, narrow pa...	OMIM:230740
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, H...	ORPHA:468631
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, High, narrow palate, Cleft lip, Thick lower l...	OMIM:616920
Mitochondrial Complex I Deficiency, Nuclear Type 33	Simplified gyral pattern, Cerebellar hypoplasia, Ventriculomegaly, Increased CSF lactate	OMIM:618253
Pallister-Hall Syndrome	Natal tooth, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cleft palate, ...	OMIM:146510
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Peho Syndrome	Cerebellar atrophy, Hydrocephalus, Optic atrophy, Ventriculomegaly	ORPHA:2836
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Patent ductus arteriosus, Pierre-Robin sequence, Cleft p...	OMIM:217980
Peters Plus Syndrome	Polyhydramnios, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Widely spaced teeth...	ORPHA:709
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Short palm, Cleft upper lip, Esophageal atresia, Congenital hepatic fibrosis, Abnorm...	ORPHA:93271
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Rhabdomyolysis, Dehydration, Hype...	ORPHA:94093
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial ...	ORPHA:261330
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re...	ORPHA:550
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Gitelman Syndrome	Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Rhabdomyolysis, Low-to-normal bl...	ORPHA:358
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Thin upper lip vermilion, Congenital diaphragmatic hernia, Deep philtrum, Abnormal heart morpholo...	OMIM:617641
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy, Cerebellar hypoplasia	OMIM:613989
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Abnormality of the dentition, Femoral bowing, Thin ribs, Umbilical hernia	OMIM:617952
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Simplified gyral pattern, Neonatal death	OMIM:251230
Bresek Syndrome	Neonatal death, Hydrocephalus	ORPHA:85284
Microphthalmia With Limb Anomalies	Macrodontia, Hypoplasia of the premaxilla, Micrognathia, Venous insufficiency, Hypoplasia of the ...	ORPHA:1106
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Patent ductus arteriosus, Dilated cardiomyopathy, Rhabdomyolysis, Concentric hypert...	OMIM:610505
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Polyhydramnios, High, narrow palate...	OMIM:613406
Transketolase Deficiency	Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he...	ORPHA:488618
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia	OMIM:194080
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft lip, High palate, Bifid uvula	OMIM:155145
Fanconi Anemia, Complementation Group R	Chiari type I malformation, Hydrocephalus	OMIM:617244
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Cerebellar hypoplasia	ORPHA:163966
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Incr...	OMIM:605275
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High palate, Retrognathia	ORPHA:52055
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Atrial septal defect, Microdontia, C...	OMIM:194050
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Polyhydramnios, Congestive heart failure, Flexion contracture, Dehydration, Pr...	OMIM:616271
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Facial palsy, Dandy-Walker malformation	OMIM:310400
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Extra-axial cerebrospinal fluid accumul...	OMIM:616900
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, L...	OMIM:616914
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Polyhydramnio...	ORPHA:1655
Abetalipoproteinemia	Elevated hepatic transaminase, Abnormality of retinal pigmentation, Hepatomegaly, Cardiomegaly, C...	ORPHA:14
Intellectual Developmental Disorder, Autosomal Dominant 64	Periventricular nodular heterotopia, Hypertonia, Cerebellar hypoplasia, Ventriculomegaly	OMIM:619188
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Intestinal perforation, Conges...	ORPHA:85450
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Umbilical hernia, High palate, Syndactyly	OMIM:614520
Ciliary Dyskinesia, Primary, 25	Situs inversus totalis, Dextrocardia, Polysplenia	OMIM:615482
Distal Triplication 15Q	Patent ductus arteriosus, Flexion contracture, Hypoplastic aortic arch, Hydrocephalus, Abnormal h...	ORPHA:314588
Trichothiodystrophy	Multiple joint contractures, Ventricular septal defect, Carious teeth, High, narrow palate, Absen...	ORPHA:33364
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Hydro...	ORPHA:91348
Developmental And Epileptic Encephalopathy 1	Ventriculomegaly	OMIM:308350
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gait ataxia, Gray matt...	ORPHA:75857
Aceruloplasminemia	Abnormality of retinal pigmentation, Torticollis, Congestive heart failure, Abnormal pancreas mor...	ORPHA:48818
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Tenorio Syndrome	Raynaud phenomenon, Hydrocephalus, Syncope, Ventriculomegaly	OMIM:616260
Noonan Syndrome 4	Abnormal bleeding, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal de...	OMIM:610733
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cle...	OMIM:619122
Pmm2-Cdg	Elevated hepatic transaminase, Thin upper lip vermilion, Pericarditis, Multiple joint contracture...	ORPHA:79318
Doors Syndrome	Short lingual frenulum, Polyhydramnios, Abnormal finger morphology, Downturned corners of mouth, ...	ORPHA:79500
Trisomy 17P	Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Hydrocephalus, Macrogloss...	ORPHA:261290
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe...	OMIM:612562
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus,...	ORPHA:457193
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:71212
Cloacal Exstrophy	Omphalocele, Intestinal malrotation, Spina bifida, Myelomeningocele, Abnormal tibia morphology, H...	ORPHA:93929
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Micrognathia, Complete atrioventricular canal defect, Cleft lip...	OMIM:617925
Alagille Syndrome 2	Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ...	OMIM:610205
Man1B1-Cdg	Resting tremor, Broad-based gait, Cerebellar hypoplasia, Periventricular heterotopia	ORPHA:397941
Maternal Uniparental Disomy Of Chromosome 1	Ventriculomegaly	ORPHA:251009
Graves Disease, Susceptibility To, 1	Congestive heart failure, Hyperactivity, Polyphagia	OMIM:275000
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosu...	ORPHA:1812
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Thanatophoric Dysplasia, Type I	Neonatal death, Gray matter heterotopia, Hydrocephalus	OMIM:187600
Microcephaly 26, Primary, Autosomal Dominant	Dysplastic corpus callosum, Simplified gyral pattern, Extra-axial cerebrospinal fluid accumulatio...	OMIM:619179
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Ventriculomegaly	OMIM:612936
Hurler Syndrome	Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Camptodactyly of finger, Angina ...	ORPHA:93473
Combined D-2- And L-2-Hydroxyglutaric Aciduria	Cerebellar hypoplasia, Ventriculomegaly	OMIM:615182
Contractures-Developmental Delay-Pierre Robin Syndrome	Inguinal hernia, Arachnodactyly, Overlapping toe, Metatarsus adductus, High, narrow palate, Short...	ORPHA:436003
Pallister-Hall Syndrome	Atrial septal defect, Atrioventricular canal defect, Bifid uvula, Mesoaxial polydactyly, Radial b...	ORPHA:672
Full Nf2-Related Schwannomatosis	Somatic sensory dysfunction, Facial palsy, Bilateral vestibular schwannoma, Abnormal cerebellum m...	ORPHA:637
Digeorge Syndrome	Inguinal hernia, Ventricular septal defect, Femoral hernia, High, narrow palate, Splenomegaly, Pa...	OMIM:188400
Endove Syndrome, Limb-Brain Type	Toe syndactyly, Aplasia of the 3rd finger, Umbilical hernia, Triangular tibia, Talar aplasia	OMIM:619218
Linear Verrucous Nevus Syndrome	Ventriculomegaly, Dandy-Walker malformation	ORPHA:2611
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Short metatarsal, Oligodontia, High palate, Short palm, Prominent U wave, Clinod...	OMIM:170390
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Syndactyly, Brachydactyly, Intestinal malrotation, Velopharyngeal insuf...	OMIM:614701
Intellectual Developmental Disorder, Autosomal Dominant 21	Ventriculomegaly	OMIM:615502
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Edema of the dorsum of hands, Lateral clavicle hook, Femoral bowing,...	OMIM:274000
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fourth metatarsal, Polyhydramnios, Cephalohematoma, Short philtrum, Widely spaced teeth, Pa...	OMIM:619841
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Atypical Werner Syndrome	Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Finger clinodactyly, Premature ar...	ORPHA:79474
Avian Influenza	Elevated hepatic transaminase, Congestive heart failure, Rhabdomyolysis, Hepatitis, Increased cir...	ORPHA:454836
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Protruding tongue, Patent ductus arteriosus, ...	OMIM:300963
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Flexion contracture, Hydrops fetalis, Abnormal heart morphology	ORPHA:1865
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormality of the dentition, Tetraamelia, Cleft upper lip	OMIM:273400
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Erdheim-Chester Disease	Abnormal pericardium morphology, Retroperitoneal fibrosis, Congestive heart failure, Pleural effu...	ORPHA:35687
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar vermis hypoplasia	OMIM:619869
Gabriele-De Vries Syndrome	Lateral ventricle dilatation	OMIM:617557
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Ventriculomegaly	ORPHA:500180
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus tot...	OMIM:609008
Holt-Oram Syndrome	Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna, Secundum a...	OMIM:142900
Ogden Syndrome	Torticollis, Ventricular septal defect, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia,...	ORPHA:276432
Tetanus	Hypertension, Tachycardia, Bradycardia	ORPHA:3299
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Dextrocardia, Mesoaxial hand polydactyly, Situs i...	OMIM:615994
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Wrinkly Skin Syndrome	Delayed eruption of teeth, Scapular winging, Inguinal hernia, Congenital hip dislocation, Hypopla...	OMIM:278250
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Meningocele, Patellar hypoplasia, Wide mouth, Aplasia/Hypoplasia...	ORPHA:1827
Listeriosis	Pericarditis, Liver abscess, Miscarriage, Myocarditis, Jaundice, Rhabdomyolysis, Peritonitis, Con...	ORPHA:533
Restrictive Dermopathy	Multiple joint contractures, Polyhydramnios, Atrial septal defect, Patent ductus arteriosus, Asce...	ORPHA:1662
Acquired Idiopathic Sideroblastic Anemia	Splenomegaly, Congestive heart failure, Abnormal bleeding, Hepatomegaly	ORPHA:75564
Wrinkly Skin Syndrome	Delayed eruption of teeth, Decreased muscle mass, Inguinal hernia, Lipodystrophy, Congenital hip ...	ORPHA:2834
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Dextrocardia	OMIM:611884
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Arterial dissection, Abnormality of the dentition, Malabsorption, Venous insuffi...	ORPHA:285
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
3Mc Syndrome	Diastasis recti, Hip dislocation, Orofacial cleft, Downturned corners of mouth, Radioulnar synost...	ORPHA:293843
Chromosome 17Q12 Duplication Syndrome	Facial hypotonia, Cleft soft palate, Esophageal atresia, Atrial septal defect, Broad thumb, Smoot...	OMIM:614526
Marburg Hemorrhagic Fever	Shock, Elevated hepatic transaminase, Tachycardia, Pericarditis, Abnormal bleeding, Excessive ble...	ORPHA:99826
Sickle Cell Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypertension, Stroke, Cho...	OMIM:603903
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Short clavicles, Short...	OMIM:617159
Neurooculorenal Syndrome	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the...	OMIM:620305
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Umbilical hernia, Inguinal hernia, Nemaline bodies, Elbow contracture	OMIM:620275
Holoprosencephaly 7	Omphalocele, Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Cleft palate, Unilate...	OMIM:610828
Hallermann-Streiff Syndrome	Natal tooth, Abnormality of the dentition, Congestive heart failure, Supernumerary tooth, High, n...	ORPHA:2108
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy...	OMIM:171420
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydrocephalus, Stillbirth, Cerebellar hypop...	OMIM:243605
Tetrasomy 18P	Achalasia, Syncope, Abnormality of neuronal migration	ORPHA:3307
Arthrogryposis And Ectodermal Dysplasia	Skeletal muscle atrophy, Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cle...	OMIM:601701
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Ventricular septal defect, Flexion contracture, High palate, Long philt...	OMIM:617452
Solitary Median Maxillary Central Incisor	Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus, Solitary med...	OMIM:147250
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Ventriculomegaly	OMIM:617807
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Umbilical hernia, Smooth philtrum, Genu valgum	ORPHA:1778
Alpha-N-Acetylgalactosaminidase Deficiency	Cerebellar hypoplasia, Cardiomegaly	ORPHA:3137
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ventriculomegaly	ORPHA:1933
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Congestive heart failure, Tachycardia	ORPHA:90037
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Ventricular septal defect, Congestive heart failure, Patent ductus arte...	ORPHA:444077
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Persistence of primary teeth, Protruding tongue, Conotruncal ...	OMIM:610253
Immunodeficiency 49	Natal tooth, Pulmonary artery stenosis, Umbilical hernia, Short philtrum	OMIM:617237
Cerebral Palsy, Spastic Quadriplegic, 3	Abnormal pyramidal sign, Spastic tetraplegia, Spastic diplegia, Gray matter heterotopia, Spasticity	OMIM:617008
Rabin-Pappas Syndrome	Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Chiari type I malformation, Cerebe...	OMIM:620155
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ...	ORPHA:1782
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Ventriculomegaly	OMIM:618314
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
19P13.3 Microduplication Syndrome	Ventricular septal defect, Micrognathia, Cleft palate, Thick vermilion border, Short philtrum, Na...	ORPHA:447980
Nail-Patella Syndrome	Biceps aplasia, Spina bifida, Absence of pectoralis minor muscle, Cleft upper lip, Triceps aplasi...	OMIM:161200
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Narrow mouth, Downtu...	OMIM:617360
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Toe syndactyly, Bilateral camptodactyly, Oligodontia, Umbilical hernia, Long hallux, Smooth philtrum	OMIM:619234
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Palpebral edema, Congestive heart failure, Cardiac myxoma, 3-4 finger cutaneou...	OMIM:181270
Achondrogenesis, Type Ii	Barrel-shaped chest, Broad long bones, Edema, Short tubular bones of the hand, Polyhydramnios, Hy...	OMIM:200610
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Ventriculomegaly	ORPHA:3224
3Mc Syndrome 2	Prominence of the premaxilla, Torticollis, Diastasis recti, Hypoplasia of the musculature, Partia...	OMIM:265050
Sandhoff Disease	Skeletal muscle atrophy, Orthostatic hypotension, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly,...	OMIM:268800
Rasmussen Subacute Encephalitis	Increased CSF protein concentration, Ventriculomegaly, Abnormal cerebrospinal fluid morphology	ORPHA:1929
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ...	OMIM:610759
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Ventricular septal defect, Micrognathia	OMIM:616901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Type II lissencephaly, Hydrocephalus, Optic atrophy, Myoclonus, Cerebellar ...	OMIM:253280
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Cardiac arrest, Increased CSF lactate, Hypertrophic cardiomyopathy, Ventricul...	OMIM:604377
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Hypo...	OMIM:300712
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Facial palsy, Congesti...	ORPHA:31826
Kury-Isidor Syndrome	Tented upper lip vermilion, Ventricular septal defect, High palate, Widely spaced teeth, Long phi...	OMIM:619762
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Ventriculomegaly	OMIM:618707
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Ohdo Syndrome, Sbbys Variant	Dilated cardiomyopathy	OMIM:603736
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cleft palate, Cleft upper lip	OMIM:244200
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Ventricular septal ...	ORPHA:261494
Total Anomalous Pulmonary Venous Return 1	Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,...	OMIM:614609
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Increased CSF lactate, Agenesis ...	ORPHA:500144
Developmental And Epileptic Encephalopathy 31B	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620352
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Congestive heart failure, Cheilitis, Pedal edema, Geographic tongue	ORPHA:247353
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Tooth agenesis, Cleft palate, Cleft upper lip	OMIM:147950
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Deep philtrum, Gingivitis, Dehydration, Periodontitis, Abnormal dental enamel mo...	ORPHA:534
Chime Syndrome	Ventricular septal defect, Abnormal dental morphology, Aplastic clavicle, Abnormality of the dent...	ORPHA:3474
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept...	ORPHA:2519
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Edema, Polyhydramnios, Hypop...	ORPHA:2347
Geleophysic Dysplasia 2	Short palm, Thin upper lip vermilion, Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Co...	OMIM:614185
Fragile X Syndrome	Periventricular heterotopia, Mitral valve prolapse	OMIM:300624
Lymphedema-Distichiasis Syndrome	Varicose veins, Patent ductus arteriosus, Cleft palate, Cleft upper lip	ORPHA:33001
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, High, narrow palate, High palate, Widely spaced teeth, Hepatic fibrosis, N...	OMIM:218330
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Ivic Syndrome	Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, Hypoplasia of the ulna, L...	OMIM:147750
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis	ORPHA:1788
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Tics, Chorioretinal coloboma, Compulsive behaviors, Hepatic steatosis, Abn...	OMIM:619475
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Arterial tortuosity, Micrognathia, Descending thoracic aorta aneurysm, Pat...	OMIM:609192
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar...	OMIM:175050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epiphy...	OMIM:271640
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Dextrocardia	OMIM:614679
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Accessory oral frenulum, Patent ductus arteriosus, Supernumerary tooth, Coarcta...	OMIM:617088
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Chiari malformation	ORPHA:93259
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Lateral ventricle dilatation	OMIM:618367
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Short Stature-Micrognathia Syndrome	Rhizomelia, Ventricular septal defect, Micrognathia, Cleft palate, Skeletal muscle hypertrophy, H...	OMIM:617164
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ventriculomegaly, Ataxia, Hydrocephalus, Optic atrophy, Hemiparesis, Gait ...	ORPHA:395
Orofaciodigital Syndrome Type 1	Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Micrognathia, Open ...	ORPHA:2750
Branchio-Oculo-Facial Syndrome	Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenesis, High palate, Everted lower...	ORPHA:1297
Prader-Willi Syndrome Due To Translocation	Lateral ventricle dilatation, Decreased response to growth hormone stimulation test, Anterior pit...	ORPHA:177907
Campomelia, Cumming Type	Hepatomegaly, Bowing of the long bones, Lymphedema, Pancreatic cysts, Abnormality of the pancreas...	ORPHA:1318
Congenital Contractural Arachnodactyly	Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Flexion contracture, Tracheoesop...	ORPHA:115
Cerebral Visual Impairment	Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Clumsine...	ORPHA:447788
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Micrognathia, Conical tooth, Short thumb, Cleft upper lip, Hypoplasia of ...	OMIM:263750
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elbow contracture, Patent ductus arteriosus, Hydrocephalus, Knee flexion contracture, Atrial sept...	OMIM:618162
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Lip pit, Micrognathia, Non-midline cleft lip, Fibrous syngnathia, Cleft...	ORPHA:1300
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat...	OMIM:617713
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H...	OMIM:602782
Carney Complex, Type 1	Cardiac myxoma, Congestive heart failure	OMIM:160980
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Gaucher Disease	Hepatomegaly, Mitral valve calcification, Death in infancy, Abnormal heart valve morphology, Abno...	ORPHA:355
Hyperekplexia 1	Umbilical hernia, Inguinal hernia, Hip dislocation	OMIM:149400
Cadds	Cerebellar atrophy, Ventriculomegaly	ORPHA:369942
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Dextrocardia, Patent ductus arteriosus, Hydrocephalu...	ORPHA:1571
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Ataxia, Noncommunicating hydrocephalus, Clumsiness	OMIM:619320
4Q21 Microdeletion Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:238750
Costello Syndrome	Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Macroglossia, Pulmonic stenosis...	ORPHA:3071
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Cardiomegaly, Hypertension, Death in childhood, Pulmonary arterial hypertension...	OMIM:613320
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Congestive heart failure, Tachycardia, Jaundice	ORPHA:90033
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Patent ductus arteriosus, Gingival over...	OMIM:213980
Severe Generalized Junctional Epidermolysis Bullosa	Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip morphology, Edema, Es...	ORPHA:79404
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Micrognathi...	OMIM:164210
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Ventriculomegaly, Abnormal heart morphology	ORPHA:494344
9P13 Microdeletion Syndrome	Clinodactyly of the 5th finger, Umbilical hernia, High palate	ORPHA:324313
Intellectual Developmental Disorder, X-Linked 106	Bicuspid aortic valve	OMIM:300997
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, High, narrow ...	OMIM:619312
Holoprosencephaly 4	Median cleft lip and palate, Median cleft lip, Semilobar holoprosencephaly	OMIM:142946
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Pfeiffer Syndrome Type 1	Aqueductal stenosis	ORPHA:93258
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Hypertrophic cardiomyopathy, Perisylvian polymicrogyria, Ventriculomegaly	OMIM:619121
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Aplas...	ORPHA:264450
Teebi-Shaltout Syndrome	Syndactyly, Ventricular septal defect, Rocker bottom foot, Metatarsus adductus, High, narrow pala...	OMIM:272950
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia, Tongue fasciculations	OMIM:608800
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Contracture of the proximal i...	OMIM:300998
49,Xxxyy Syndrome	Increased circulating gonadotropin level, Ventriculomegaly	ORPHA:261534
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft palate, Furrowed tongue, High palate...	OMIM:616449
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Ataxia, Tremor, Abnormality of neuronal migration, Abnormal heart m...	ORPHA:2754
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Congestive heart failure, Arteriovenous malformation	ORPHA:137608
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Meckel Syndrome, Type 6	Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate	OMIM:612284
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Hydrocephalus, Agenesis...	OMIM:610829
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Thin upper lip vermilion, Limb joint contracture, Ventricular septal defect, High palate, Long ph...	ORPHA:505237
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp...	ORPHA:444072
Frontometaphyseal Dysplasia 2	Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep...	OMIM:617137
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Micrognathia, Deep philtrum, Cleft palate, Atrial septal defect, Malar...	OMIM:610536
Temple Syndrome	Hydrocephalus	OMIM:616222
Icf Syndrome	Macroglossia, Malabsorption, Umbilical hernia, Protruding tongue	ORPHA:2268
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C...	ORPHA:93316
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Inguinal hernia, Congenital hip dislocation, Dental crowding, Arachn...	OMIM:225400
Trisomy 9P	Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth	ORPHA:236
Temtamy Syndrome	Aortic regurgitation, Agenesis of corpus callosum, Ventriculomegaly	OMIM:218340
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Abnormality of the dentition, Cleft palate, Mitral valve prolapse,...	ORPHA:90354
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ...	ORPHA:500
Combined Oxidative Phosphorylation Deficiency 25	Hypoplasia of the pons, Intraventricular hemorrhage, Cerebellar atrophy, Ventriculomegaly	OMIM:616430
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Hepatic cysts, Mitral valve prolapse, Hypertension, Mitral regurgitation, Ce...	OMIM:173900
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Pleural effusion, Anasarca, Edema	OMIM:254900
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Biliary hyperplasia, Contracture of the distal interphalangeal joint of the fingers...	ORPHA:83617
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Dextrocardia	OMIM:618063
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ray...	ORPHA:1855
Multiple Synostoses Syndrome 1	Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Short philtrum, L...	OMIM:186500
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Polyhydramnios, Congestive heart failure, Microvesicular hepatic s...	OMIM:617156
Arima Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ...	OMIM:243910
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Ventriculomegaly	OMIM:611087
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Barrel-shaped chest, Hip contracture, Inguinal hernia, Ventricular septal defect, Elbow contractu...	OMIM:178110
Acromelic Frontonasal Dysostosis	Encephalocele, Optic nerve hypoplasia, Choroid plexus cyst, Retrocerebellar cyst, Gray matter het...	OMIM:603671
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Villous atrophy, Ventricular septal defect, Polyhydramnios, A...	OMIM:222470
Pseudo-Torch Syndrome 3	Hypertension, Cerebellar hypoplasia, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Palpebral edema, Thin lower lip vermilion, Arteria lusoria, Clinodactyly of the 2nd finger, Cone-...	ORPHA:221139
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Ventricular septal defect, Lissencephaly, Arthrogryposis multiplex congenita, Right...	OMIM:613404
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardiogenic shock, ...	ORPHA:31824
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Abnormal heart morphology	ORPHA:531151
Joubert Syndrome 1	Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Br...	OMIM:213300
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart mo...	ORPHA:79282
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Secundum atrial septal defect, Hydrocephalus, Dilation of Virchow-Robin spaces, Camptodactyly of ...	OMIM:619951
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Renal artery aneurysm, Portal hypertension, Raynaud phenomenon, Splenomegaly, Vascu...	OMIM:615688
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth...	ORPHA:254346
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Tricuspid regurgitation, Short fifth metatarsal, 2-3 toe syndactyly, Sin...	OMIM:261990
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Abnormal dental morphology, Ventricular septal defec...	ORPHA:1458
Frontofacionasal Dysplasia	Encephalocele, Non-midline cleft lip, Cleft palate	ORPHA:1791
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Villous atrophy, Atrial septal defect, Gastritis, Bicuspid ao...	ORPHA:84064
Spondylo-Ocular Syndrome	Ventricular septal defect, Thin vermilion border, Facial hypotonia, Long philtrum	ORPHA:85194
Intellectual Developmental Disorder, Autosomal Dominant 51	Ventriculomegaly	OMIM:617788
Alexander Disease	Ataxia, Clonus, Facial palsy, Tremor, Aqueductal stenosis, Chorea, Hydrocephalus, Abnormal pyrami...	ORPHA:58
Mosaic Trisomy 16	Ventricular septal defect, Short thumb, Patent ductus arteriosus, Large placenta, Coarctation of ...	ORPHA:1708
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Clavicular sclerosis, Sclerotic scapulae, Abnormal metaph...	OMIM:224300
Intellectual Disability-Alacrima-Achalasia Syndrome	Ventriculomegaly	ORPHA:289483
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion	OMIM:181000
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Hydrocephalus, Tetraplegia, Cerebellar hypoplasia, Pulmonic stenosis, Atrial se...	OMIM:257300
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Medial calcification of large arteries, Congestive heart failure, Esophageal car...	ORPHA:391487
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Fanconi Anemia, Complementation Group I	Colpocephaly, Chiari malformation, Agenesis of corpus callosum, Decreased response to growth horm...	OMIM:609053
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Heart murmur, Pineal cyst, Mitral regurgit...	OMIM:615873
Joubert Syndrome 7	Encephalocele, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia	OMIM:611560
Adnp Syndrome	Thin upper lip vermilion, Inguinal hernia, Broad hallux, Sandal gap, Abnormal toe morphology, Thi...	ORPHA:404448
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Micrognathia, Narr...	OMIM:619268
Brittle Cornea Syndrome 2	Umbilical hernia, Inguinal hernia, Bruising susceptibility	OMIM:614170
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Cardiomyopathy, Hypertension	OMIM:102200
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Alagille Syndrome	Hypoplasia of the ulna, Ventricular septal defect, Micrognathia, Short philtrum, Atrial septal de...	ORPHA:52
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Micromelia, Micrognathia, Hydrocephalus, Holo...	OMIM:612651
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Cranial nerve compressio...	ORPHA:276621
Neu-Laxova Syndrome 2	Spina bifida, Cerebellar hypoplasia, Ventriculomegaly, Lissencephaly	OMIM:616038
Noonan Syndrome 3	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Pulmo...	OMIM:609942
Microform Holoprosencephaly	Tented upper lip vermilion, Orofacial cleft, Cleft palate, Short philtrum, Holoprosencephaly, Sol...	ORPHA:280200
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Increased CSF protein concentration, Agenesis of corpus callosum, Ventriculomegaly	OMIM:218000
Leopard Syndrome 1	Mandibular prognathia, Scapular winging, Missing ribs, Complete atrioventricular canal defect, Cl...	OMIM:151100
8Q24.3 Microdeletion Syndrome	Branchial cyst, Micromelia, Cleft maxillary alveolar ridge, Atrioventricular canal defect, Spina ...	ORPHA:508488
Leukodystrophy, Hypomyelinating, 12	Cerebellar atrophy, Ventriculomegaly	OMIM:616683
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Ventricular septal defect, Macrodontia, Protruding tongue, Diastema, Gingi...	OMIM:212066
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Ventriculomegaly	ORPHA:466934
Pfeiffer Syndrome	Hydrocephalus, Chiari malformation	OMIM:101600
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Dilated cardiomyopathy, Cardiac arrest, Hypotension	ORPHA:20
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebellar atrophy, Periventricular nodular heterotopia, Ventriculomegaly	OMIM:618659
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Inguinal hernia, Congestive heart failure, Dilatation of the ventricular ca...	ORPHA:90348
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, ...	OMIM:201180
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ventriculomegaly	ORPHA:88639
Curry-Jones Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1553
Griscelli Syndrome	Encephalocele, Spasticity, Ataxia, Hydrocephalus	ORPHA:381
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation	OMIM:614098
Ablepharon Macrostomia Syndrome	Omphalocele, Toe syndactyly, Camptodactyly of finger, Wide mouth, Thin vermilion border, Microdon...	ORPHA:920
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Tricuspid regurgitation, Increased CSF lactate, Decreased CSF copper concentr...	OMIM:620306
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar hypoplasia	OMIM:300868
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Abnormal cerebral vascular morphology, Pulmonary...	ORPHA:3205
Fraser Syndrome	Encephalocele, Omphalocele, Anal stenosis, Finger syndactyly, Dental crowding, Toe syndactyly, Cl...	ORPHA:2052
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Disorganization of the anterior cerebellar vermis, Cerebellar vermis hypoplasia, Retrocerebellar ...	OMIM:300486
Parkes Weber Syndrome	Abnormal femoral metaphysis morphology, Abnormal bleeding, Peripheral arteriovenous fistula, Suba...	ORPHA:90307
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale	OMIM:614961
Unilateral Ocular Duplication	Encephalocele, Median cleft lip, Cleft palate	ORPHA:3374
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Colpocephaly, Mitral stenosis, Agenesis of...	OMIM:617260
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Amyloid deposition in the vitreous humor, Stroke-like episode, Cardiomyopathy, Abno...	OMIM:105210
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Ventriculomegaly	OMIM:617903
Neonatal Marfan Syndrome	Long toe, Tricuspid regurgitation, Lipoatrophy, Arachnodactyly, High, narrow palate, Abnormal car...	ORPHA:284979
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Cardiomyopathy, Ventriculomegaly	OMIM:617710
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Enthesitis-Related Juvenile Idiopathic Arthritis	Aortic regurgitation, Abnormality of the fascia, Finger dactylitis, Abnormal metacarpophalangeal ...	ORPHA:85438
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Abnormal spinal cord morphology, Distal amyotrophy	ORPHA:139578
Beta-Thalassemia Intermedia	Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure, Splenomegaly, Jaund...	ORPHA:231222
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g...	OMIM:265300
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly	ORPHA:99931
Charge Syndrome	Aortic arch aneurysm, Delayed eruption of teeth, Facial palsy, Cleft upper lip, Aqueductal stenos...	ORPHA:138
Distal Deletion 12Q	Median cleft lip, Micrognathia, High, narrow palate, Patent ductus arteriosus, Supernumerary toot...	ORPHA:96149
Sweet Syndrome	Small vessel vasculitis, Dilated cardiomyopathy, Myositis	ORPHA:3243
Brain Malformations With Or Without Urinary Tract Defects	Chiari type I malformation, Agenesis of corpus callosum, Ventriculomegaly	OMIM:613735
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Congestive heart failure, Hydrocephalus, Pulmonary arterial hypertension	OMIM:616482
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Ventriculomegaly, Increased CSF...	OMIM:614946
Joubert Syndrome 22	Molar tooth sign on MRI, Agenesis of cerebellar vermis	OMIM:615665
Craniopharyngioma	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Myocardial infarction, Hydrocephalu...	ORPHA:54595
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Cerebellar atrophy, Ventriculomegaly	OMIM:618547
Bilateral Polymicrogyria	Cerebellar atrophy, 4-layered lissencephaly, Perisylvian polymicrogyria, Aplasia/Hypoplasia of th...	ORPHA:268940
Femoral-Facial Syndrome	Short fourth metatarsal, Humeroradial synostosis, Rib fusion, Pulmonic stenosis, Truncus arterios...	OMIM:134780
Meier-Gorlin Syndrome 6	Sandal gap, Patellar aplasia, Cleft palate, Hip dysplasia, Thick vermilion border, Short middle p...	OMIM:616835
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, H...	ORPHA:255210
Huntington Disease-Like 1	Cerebellar atrophy, Ventriculomegaly	ORPHA:157941
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Poor motor coordination, Ataxia, Tremor, Rigidity, Chorea, Athetosis...	ORPHA:25
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Bowed humerus, Short tibia, Ulnar bowing, Hypoplastic acetabulae, Femoral bowing, T...	OMIM:620076
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Orofacial cleft, High palate, Atrial septal defect, Patent foramen ovale, ...	OMIM:607872
Apert Syndrome	Hydrocephalus, Optic atrophy, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:87
Manitoba Oculotrichoanal Syndrome	Omphalocele	OMIM:248450
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of upper lip vermillion, Ventricular septal defect, Dental crowding, Micrognathia, Ab...	ORPHA:251028
Glycogen Storage Disease Due To Acid Maltase Deficiency	Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contracture, Lower limb muscle...	ORPHA:365
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Myocardial infarction, Lymphedema, High, narrow palate, Enlarged thorax, I...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Myocardial infarction, Lymphedema, High, narrow palate, Enlarged thorax, I...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Myocardial infarction, Lymphedema, High, narrow palate, Enlarged thorax, I...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Myocardial infarction, Lymphedema, High, narrow palate, Enlarged thorax, I...	ORPHA:881
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Hypoplasia of the brainstem, Cerebellar hypoplasia, Pulmonic stenosis, Polymicrogyria, Ventriculo...	OMIM:618343
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Hydrocephalus, Facial paralysis, Cranial nerve compression	OMIM:259710
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Umbilical hernia, Inguinal hernia, Esophagitis, Adducted thumb	ORPHA:79351
Occipital Horn Syndrome	Venous insufficiency, High, narrow palate, Coxa vara, Humerus varus, Pectus carinatum, Narrow che...	ORPHA:198
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi...	ORPHA:2752
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Atrial septal defect, Hydrocephalus, Flexion contracture, Camptodactyly	OMIM:207410
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Spina bifida occulta, Bifid uvula	OMIM:119500
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Cleft palate, Broad finger, Short finger, Umbilical hernia, Broad phal...	ORPHA:1934
Omodysplasia 1	Short humerus, Ventricular septal defect, Increased fibular diameter, Pulmonary artery stenosis, ...	OMIM:258315
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep...	OMIM:614947
Aspartylglucosaminuria	Hepatomegaly, Inguinal hernia, Abnormal morphology of ulna, Abnormality of the dentition, Carious...	ORPHA:93
Congenital Disorder Of Glycosylation, Type Iim	Hypertension, Lateral ventricle dilatation, Cerebellar hypoplasia	OMIM:300896
Neuroocular Syndrome	Hyperextensibility of the finger joints, Scapular winging, Tapered finger, Pectus excavatum, Pate...	OMIM:619539
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Heart murmur, Intracranial he...	ORPHA:163979
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Abdominal situs inversus, Dextrocardia	OMIM:619607
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia, Neonatal death, Arthrogr...	OMIM:608013
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental ...	OMIM:193400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Transient ischemic attack, Dysplastic corpus callosum, Simplified gyral pattern, Lateral ventricl...	ORPHA:500150
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Po...	ORPHA:3472
Exstrophy-Epispadias Complex	Omphalocele, Anal stenosis, Inguinal hernia, Spina bifida, Cystocele, Abnormality of the abdomina...	ORPHA:322
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, First degree atrioventricular block, Ventriculomegaly	ORPHA:589821
Menke-Hennekam Syndrome 1	Thin upper lip vermilion, Everted upper lip vermilion, Inguinal hernia, Broad hallux, Overlapping...	OMIM:618332
3-Methylglutaconic Aciduria, Type Viii	Patent ductus arteriosus, Jaundice, Bradycardia, Neonatal death	OMIM:617248
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve	OMIM:619318
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Hyperactivity, Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Flexion contracture, Atri...	OMIM:619720
Galloway-Mowat Syndrome 9	Cerebellar atrophy, Ventriculomegaly	OMIM:619603
Yellow Fever	Shock, Abnormal bleeding, Acute pancreatitis, Elevated circulating aspartate aminotransferase con...	ORPHA:99829
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve	OMIM:619721
Tarp Syndrome	Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Pierre-Robin sequ...	ORPHA:2886
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture	ORPHA:89842
Muscular Dystrophy, Congenital, With Or Without Seizures	Ventriculomegaly	OMIM:620166
Pheochromocytoma	Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy...	OMIM:171300
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Ventriculomegaly	OMIM:618381
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Mitral valve calcification, Spontaneous, recurrent epistaxis, Aortic valve calcifica...	ORPHA:2072
Stickler Syndrome	Skeletal muscle atrophy, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxil...	ORPHA:828
Orofaciodigital Syndrome Iii	Pectus excavatum, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot...	OMIM:258850
Toriello-Carey Syndrome	Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Anteriorly p...	ORPHA:3338
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Myelopathy, Increased CSF lactate, Cervical myelopathy, Ventriculomegaly	OMIM:617186
Hengel-Maroofian-Schols Syndrome	Bicuspid aortic valve, Foot joint contracture	OMIM:619641
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Familial Renal Glucosuria	Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria	ORPHA:69076
19Q13.11 Microdeletion Syndrome	Ventricular septal defect, Wide mouth, Thin vermilion border, Solitary median maxillary central i...	ORPHA:217346
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brachydactyly, C...	OMIM:620107
Jacobsen Syndrome	Ventricular septal defect, Hydrocephalus, Flexion contracture, Optic atrophy, Macular hypoplasia,...	OMIM:147791
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Patent ductus arteriosus, High palate, Retrognathia, Bifid uvula	OMIM:300472
Orofaciodigital Syndrome Type 4	Median cleft lip, Camptodactyly of finger, Micromelia, Micrognathia, Abnormal oral mucosa morphol...	ORPHA:2753
H Syndrome	Cleft upper lip, Hydrocephalus, Gingival overgrowth, Varicose veins, Camptodactyly	ORPHA:168569
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Optic atrophy, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
Cohen Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Micrognathia, Hypoplasi...	ORPHA:193
Squalene Synthase Deficiency	Elbow flexion contracture, Bicuspid aortic valve, Optic nerve hypoplasia, Knee flexion contracture	OMIM:618156
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Mckusick-Kaufman Syndrome	Finger syndactyly, Aganglionic megacolon, Ventricular septal defect, Tarsal synostosis, Patent du...	ORPHA:2473
Adult Krabbe Disease	Abnormal pons morphology, Abnormal medulla oblongata morphology, Increased CSF protein concentrat...	ORPHA:206448
Encephalitis Lethargica	Upper limb muscle weakness, Bradycardia	ORPHA:83600
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Endocardial fibroelastosis	OMIM:276822
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect, Cerebellar vermis hypoplasia, Periventricular nodular heterotopia	OMIM:619135
Renal Agenesis	Hypertension, Ventricular septal defect, Oligohydramnios	ORPHA:411709
Developmental And Epileptic Encephalopathy 64	Cerebellar hypoplasia, Ventriculomegaly	OMIM:618004
Curry-Jones Syndrome	Lipomyelomeningocele, Chiari type I malformation, Occipital meningocele, Polymicrogyria, Agenesis...	OMIM:601707
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Ventriculomegaly	ORPHA:431361
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,...	ORPHA:552
Maternal Uniparental Disomy Of Chromosome 6	Cleft palate, Cleft upper lip	ORPHA:96181
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Camptodactyly, Knee flexion contracture	OMIM:619694
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Joubert Syndrome 40	Molar tooth sign on MRI	OMIM:619582
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Dextrocardia	OMIM:606763
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hypoplasia of the pons, Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus callos...	OMIM:619512
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Ventricular septal defect, Short hallux, Micrognathia, Cleft upper lip, Sh...	OMIM:194190
Joubert Syndrome 35	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia	OMIM:618161
Pontocerebellar Hypoplasia, Type 2E	Cerebellar atrophy, Ventriculomegaly, Facial telangiectasia	OMIM:615851
Martin-Probst Syndrome	Thick lower lip vermilion, Dental malocclusion, Telangiectasia, Wide mouth, Umbilical hernia	OMIM:300519
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Lymphedema, Hydrocephalus, Pulmonic stenosis, Atrial septal defe...	ORPHA:1340
49,Xyyyy Syndrome	Increased circulating gonadotropin level, Ventriculomegaly	ORPHA:99330
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Ventricular septal defect, Heart murmur	ORPHA:166035
Congenital Disorder Of Glycosylation, Type Iiw	Pectus carinatum, Narrow chest, Elevated gamma-glutamyltransferase level, Hepatic steatosis, Hepa...	OMIM:619525
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Polymicrogyria, Ventriculomegaly	ORPHA:457485
Hypothyroidism, Congenital, Nongoitrous, 2	Macroglossia, Umbilical hernia, Bradycardia	OMIM:218700
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Atrial septal defect, Phoco...	OMIM:268300
Luscan-Lumish Syndrome	Chiari malformation, Ventriculomegaly	OMIM:616831
Mpdu1-Cdg	Decreased response to growth hormone stimulation test, Ventriculomegaly	ORPHA:79323
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Aortic regurgitation, Tricuspid regurgitation, Heart murmur, Macrogyria, Colp...	OMIM:614866
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Restless legs, Congestive heart failure, Abnormal fundus morphology, Mac...	ORPHA:94147
Hereditary Pheochromocytoma-Paraganglioma	Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Cranial nerve compressio...	ORPHA:29072
Mgat2-Cdg	Abnormal bleeding, Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal...	ORPHA:79329
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Rhizomelia, Micrognathia, Narrow mouth, Coarctation of aorta, Subvalvu...	OMIM:614114
Pyruvate Dehydrogenase Deficiency	Ventriculomegaly	ORPHA:765
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Dental crowding, Aplasia/Hypoplasia of the sternu...	OMIM:219000
Filippi Syndrome	Thin vermilion border, Ventricular septal defect, Short philtrum	ORPHA:3255
Oeis Complex	Omphalocele, 11 pairs of ribs, Congenital hip dislocation, Intestinal malrotation, Myelomeningoce...	OMIM:258040
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of neuronal migration	ORPHA:44
Tuberous Sclerosis Complex	Hyperactivity, Retinal astrocytic hamartoma, Impulsivity, Aggressive behavior, Retinal hamartoma,...	ORPHA:805
Sotos Syndrome	Mandibular prognathia, Ventricular septal defect, High, narrow palate, Muscular ventricular septa...	OMIM:117550
Galloway-Mowat Syndrome 3	Cerebellar atrophy, Simplified gyral pattern, Hypertension, Lissencephaly, Pachygyria, Ventriculo...	OMIM:617729
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Cardiomyopathy, Rod-cone dystrophy, Communicating hydrocephalus	OMIM:616084
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Anteriorly placed anus, Short uppe...	OMIM:200110
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Hydrocephalus, Interrupted aortic arch	ORPHA:250989
Ctcf-Related Neurodevelopmental Disorder	Short philtrum, Joint contracture of the 5th finger, Atrial septal defect, Prominent fingertip pa...	ORPHA:363611
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Hypertrophic cardiomyopathy, Extra-axial cerebrospinal fluid accumulation, Cerebellar vermis hypo...	OMIM:619383
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndactyly, 2-3 toe synda...	OMIM:107480
Sotos Syndrome	Hip contracture, Inguinal hernia, Aganglionic megacolon, Ventricular septal defect, Ankle flexion...	ORPHA:821
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
African Trypanosomiasis	Papilledema, Pericarditis, Hepatomegaly, Miscarriage, Abnormal EKG, Aggressive behavior, Myocardi...	ORPHA:3385
Basilicata-Akhtar Syndrome	Ventriculomegaly	OMIM:301032
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Atrial septal defect, Microdontia, Bifid...	OMIM:613458
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Short femur, Micromelia, Micrognathia, Cleft upper lip, Cleft pa...	OMIM:211350
Thyroid Ectopia	Macroglossia, Jaundice, Umbilical hernia	ORPHA:95712
Amoebiasis Due To Free-Living Amoebae	Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal cerebrospinal fluid...	ORPHA:68
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental crowding, Cardio...	OMIM:300967
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, H...	OMIM:617506
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Ventriculomegaly	ORPHA:2083
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
X Small Rings	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Upper limb undergrowt...	ORPHA:96201
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Ventricular septal defect, Micrognathia, Short distal phalanx of the 5th finger...	OMIM:620073
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Hamartoma of tongue, Cleft upper lip, Fibular hypoplasia, Cleft palate, S...	OMIM:613091
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Progressive flexion contractures, Micrognathia, Cleft upper lip,...	ORPHA:3103
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Mic...	ORPHA:261337
Ciliary Dyskinesia, Primary, 22	Situs inversus totalis, Dextrocardia	OMIM:615444
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoplasia of the pons, Cardiomyopathy, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:88618
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Chiari malformation	ORPHA:93260
Coloboma, Ocular, Autosomal Dominant	Ventriculomegaly	OMIM:120200
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly	OMIM:613603
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin...	OMIM:600376
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Clonus, Facial palsy, Hydrocephalus, Optic atrophy, Spastic tetraplegia, Hyper...	OMIM:259720
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Communicating hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:617011
Desmosterolosis	Patent ductus arteriosus, Hydrocephalus, Total anomalous pulmonary venous return, Arthrogryposis ...	OMIM:602398
Mend Syndrome	Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Hydrocephalus, Abnormal ...	ORPHA:401973
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Agenesis of corpus callos...	ORPHA:457284
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cleft palate, Abnormal heart morphology, Downtu...	ORPHA:453499
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Agenesis of corpus callosum	OMIM:612940
Friedreich Ataxia 2	Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Muscular subvalvu...	OMIM:601992
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Hydrocephalus, Optic atrophy, Ab...	ORPHA:585
Congenital Tracheal Stenosis	Ventricular septal defect, Fetal ascites, Polyhydramnios, Ascending aorta hypoplasia, Patent duct...	ORPHA:141127
Joubert Syndrome 33	Molar tooth sign on MRI	OMIM:617767
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Hydrocephalus, Optic nerve dysplasia, Tongue thrusting, Pulmonic stenosis, Atrial s...	OMIM:115150
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus, Facial paralysis, Optic atrophy, Facial palsy	OMIM:259700
Mosaic Trisomy 20	Ventricular septal defect, Micrognathia, Cleft lip, Dysplastic tricuspid valve, Cleft palate, Abn...	ORPHA:1724
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Polyhydramnios	OMIM:615503
Meier-Gorlin Syndrome 7	Ventricular septal defect, Aplasia/Hypoplasia of the patella, Complete atrioventricular canal def...	OMIM:617063
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Joubert Syndrome 20	Molar tooth sign on MRI	OMIM:614970
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Carious teeth, Diastema, Coarc...	OMIM:244450
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Occipital encephalocele, Ventricular septal defect, Hamartoma of ...	OMIM:615948
Shprintzen Omphalocele Syndrome	Omphalocele, Thin vermilion border, Narrow chest, Anal atresia	OMIM:182210
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Portal hypertension, Aplasi...	OMIM:216360
3Q29 Microduplication Syndrome	Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Cleft palate, High palate...	ORPHA:251038
Cerebellofaciodental Syndrome	Hypoplasia of the pons, Hypoplasia of the midbrain, Cerebellar hypoplasia, Ventriculomegaly	OMIM:616202
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Floating-Harbor Syndrome	Oligodontia, Humeral pseudarthrosis, Short philtrum, Atrial septal defect, Microdontia, Mesocardi...	ORPHA:2044
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Ventriculomegaly	ORPHA:2031
Cerebrofaciothoracic Dysplasia	Wide mouth, Cleft palate, Broad philtrum, Cleft upper lip	ORPHA:1394
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog...	ORPHA:2211
Developmental And Epileptic Encephalopathy 84	Ventriculomegaly	OMIM:618792
Fucosidosis	Hepatomegaly, Decreased muscle mass, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Hartsfield Syndrome	Median cleft lip, Cleft upper lip, Alobar holoprosencephaly, Cleft palate, Lobar holoprosencephal...	OMIM:615465
Warburg Micro Syndrome 3	Polymicrogyria, Ventriculomegaly	OMIM:614222
Joubert Syndrome 38	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased response to growth hormone s...	OMIM:619476
Femoral-Facial Syndrome	Ventriculomegaly	ORPHA:1988
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Ventriculomegaly	ORPHA:404473
Congenital Disorder Of Glycosylation, Type If	Ventriculomegaly	OMIM:609180
Nijmegen Breakage Syndrome	Sinusitis, Rhabdomyosarcoma, Malar prominence, Micrognathia, Cleft upper lip, Deep philtrum, Clef...	OMIM:251260
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short metacarpal, Ventricular septal defect, Micrognathia, Thick vermilion border, Short distal p...	OMIM:250410
Optic Atrophy 11	Cerebellar hypoplasia, Ventriculomegaly	OMIM:617302
Malan Syndrome	Ventriculomegaly	OMIM:614753
Marshall-Smith Syndrome	Cerebellar hypoplasia, Ventriculomegaly	ORPHA:561
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Ventricular septal defect, Hypoplasia of teeth	OMIM:234050
Cohen-Gibson Syndrome	Coxa valga, Long fingers, Patent ductus arteriosus, Flexion contracture, Flared metaphysis, Hypop...	OMIM:617561
Cerebrooculonasal Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydrocephalus, Dandy-Walker ...	OMIM:605627
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Syndactyly, Jejunal atresia, Ileal atresia, Long philtrum	OMIM:618820
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Spasticity, Optic atrophy, Ataxia, Hydrocephalus	ORPHA:220295
Meckel Syndrome	Accessory spleen, Encephalocele, Abnormal chorioretinal morphology, Pancreatic fibrosis, Situs in...	ORPHA:564
Xq12-Q13.3 Duplication Syndrome	Ventriculomegaly	ORPHA:314389
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Micrognathia, Deep philtrum, Cleft palate, Sh...	ORPHA:251014
Frontofacionasal Dysplasia	Cleft upper lip, Orofacial cleft, Cranium bifidum occultum, Malar flattening, Bifid uvula, Hypopl...	OMIM:229400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Bicuspid aortic valve, Mitral atresia, Increased hepatocellular lipid droplets,...	OMIM:220111
Joubert Syndrome 28	Molar tooth sign on MRI	OMIM:617121
Grange Syndrome	Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,...	OMIM:602531
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Retrognathia, Downtur...	OMIM:301030
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Coccidioidomycosis	Pericarditis, Abnormal retinal morphology, Abnormality of the spleen, Peritonitis, Vasculitis, Hy...	ORPHA:228123
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:607131
Noonan Syndrome 1	Lymphedema, High, narrow palate, Abnormal sternum morphology, High palate, Atrial septal defect, ...	OMIM:163950
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Abnormal brainstem morphology, Abnormality of neuronal migration, Posterior...	ORPHA:464311
Hoyeraal-Hreidarsson Syndrome	Cerebellar hypoplasia, Ventriculomegaly	ORPHA:3322
Coffin-Siris Syndrome 11	Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ...	OMIM:618779
Japanese Encephalitis	Abnormal substantia nigra morphology, Abnormal midbrain morphology, CSF pleocytosis, CSF lymphocy...	ORPHA:79139
Phelan-Mcdermid Syndrome	Ventricular septal defect, Palpebral edema, Lymphedema, Patent ductus arteriosus, Ventriculomegaly	OMIM:606232
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Ventriculomegaly	OMIM:618222
Fraser Syndrome 3	Hydrocephalus, Stillbirth	OMIM:617667
Spastic Paraplegia 51, Autosomal Recessive	Cerebellar atrophy, Ventriculomegaly	OMIM:613744
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Hypoplasia of the maxilla, Small hand, Oligodontia, Short philtrum, Th...	OMIM:609460
Neurofibromatosis, Type I	Aqueductal stenosis, Hypertension, Hydrocephalus, Spina bifida	OMIM:162200
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Thin upper lip vermilion, Toe clinodactyly, Ventricular septal defect, Sandal gap, Long fingers, ...	OMIM:620330
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Femoral bowing, Taurod...	ORPHA:2563
1P36 Deletion Syndrome	Aortic arch aneurysm, Abnormal heart valve morphology, Camptodactyly of finger, Patent ductus art...	ORPHA:1606
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, ...	ORPHA:353281
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Pectoral muscle hypoplasia/apla...	ORPHA:306542
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Micrognathia, Short thumb, Patent ductus arteriosu...	OMIM:164280
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	OMIM:157980
Joubert Syndrome 27	Molar tooth sign on MRI	OMIM:617120
Costello Syndrome	Ventricular septal defect, Rhabdomyosarcoma, Polyhydramnios, Achilles tendon contracture, Hydroce...	OMIM:218040
Caribbean Parkinsonism	Orthostatic hypotension, Ventriculomegaly	ORPHA:97355
Omphalocele Syndrome, Shprintzen-Goldberg Type	Downturned corners of mouth, Thin upper lip vermilion, Omphalocele, Anal atresia	ORPHA:3164
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Developmental And Epileptic Encephalopathy 80	Polymicrogyria, Ventriculomegaly	OMIM:618580
Alg11-Cdg	Ataxia, Opisthotonus, Gray matter heterotopia, Hypertonia, Limb hypertonia	ORPHA:280071
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Micrognathia, Narrow mouth, Patent ductus arteriosus, Macroglossia, Hi...	OMIM:613457
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy...	ORPHA:273
Duplication Of The Pituitary Gland	Encephalocele, Abnormal midbrain morphology, Abnormal pituitary gland morphology, Abnormal hypoth...	ORPHA:314621
Lymphatic Malformation 13	Patent ductus arteriosus, Retinopathy of prematurity, Mitral regurgitation, Neonatal death, Atria...	OMIM:620244
Duane-Radial Ray Syndrome	Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Facial palsy, Absent thumb, Abs...	OMIM:607323
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Optic atrophy, Agenesis of corpus callosum, Septo-optic dysplasia	ORPHA:3301
Renpenning Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Microgna...	OMIM:309500
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Polyhydramnios...	OMIM:300990
Weill-Marchesani Syndrome 1	Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus, Tooth malposition...	OMIM:277600
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Chromosome 2P16.1-P15 Deletion Syndrome	Hypoplasia of the pons, Pachygyria, Ventriculomegaly	OMIM:612513
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Cleft soft palate, Nonimmune hydrops fetalis, A...	ORPHA:124
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Overfriendliness, Bicuspid aortic valve, Ventricular septal defect, Spina bi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Overfriendliness, Bicuspid aortic valve, Ventricular septal defect, Spina bi...	ORPHA:363958
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis, Communicating hydrocephalus	OMIM:244400
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Ventriculomegaly	ORPHA:440713
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Semilobar Holoprosencephaly	Median cleft lip, Hydrocephalus, Flexion contracture, Cleft palate, Abnormal heart morphology, Ne...	ORPHA:220386
Alobar Holoprosencephaly	Median cleft lip, Hydrocephalus, Flexion contracture, Cleft palate, Abnormal heart morphology, Ne...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Hydrocephalus, Flexion contracture, Cleft palate, Abnormal heart morphology, Ne...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Hydrocephalus, Flexion contracture, Cleft palate, Abnormal heart morphology, Ne...	ORPHA:93924
Achondroplasia	Hydrocephalus	ORPHA:15
Chops Syndrome	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Anomalous pulmonary ven...	OMIM:616368
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology	ORPHA:494
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Smith-Lemli-Opitz Syndrome	Holoprosencephaly, Atrial septal defect, Hepatic steatosis, Self-mutilation, Dandy-Walker malform...	OMIM:270400
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Meningioma	Papilledema, Hemifacial spasm, Abnormal central motor function, Ataxia, Facial palsy, Abnormal ce...	ORPHA:2495
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Hallux valgus, Inguinal hernia, Ventricular septal defect, Cleft soft palat...	ORPHA:268261
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Short...	ORPHA:2438
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the cerebellum, Hypertensive crisis, Ventriculomegaly	ORPHA:1358
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Aganglionic megacolon, Abnormal de...	ORPHA:2273
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Hypoplasia of the maxilla, Pulmonary artery stenosis, Patent ductus ar...	ORPHA:79345
Orofaciodigital Syndrome Type 10	Cleft soft palate, Accessory oral frenulum, Duplication of thumb phalanx, Tarsal synostosis, Shor...	ORPHA:2756
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Patent ductus art...	ORPHA:1465
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract	OMIM:600145
Koolen-De Vries Syndrome	Abnormal cardiac septum morphology, Bicuspid aortic valve, Ventriculomegaly, Overfriendliness	ORPHA:96169
Familial Multiple Lipomatosis	Ventriculomegaly	ORPHA:199276
Joubert Syndrome 37	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:619185
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Hydrocephalus, Mitral valve p...	ORPHA:536467
3Mc Syndrome 3	Diastasis recti, Cleft palate, Cleft upper lip	OMIM:248340
Shashi-Pena Syndrome	Mild fetal ventriculomegaly, Ventriculomegaly	OMIM:617190
Mandibulofacial Dysostosis With Alopecia	Bicuspid aortic valve	OMIM:616367
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Pontocerebellar Hypoplasia, Type 10	Simplified gyral pattern, Ventriculomegaly	OMIM:615803
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Ventriculomegaly	OMIM:610651
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Bicuspid aortic valve, Ventricular septal defect, Exaggerated c...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Bicuspid aortic valve, Ventricular septal defect, Exaggerated c...	ORPHA:352665
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Pulmonary artery stenosis, Hydro...	ORPHA:667
Solitary Bone Cyst	Abnormal spinal cord morphology, Muscular edema	ORPHA:83468
Carney Complex	Neoplasm of the pancreas, Dorsocervical fat pad, Neoplasm of the stomach, Esophageal neoplasm, Co...	ORPHA:1359
Mend Syndrome	Hyperactivity, Hydrocephalus, Macular hypoplasia, Aortic valve stenosis, Dandy-Walker malformation	OMIM:300960
Cockayne Syndrome A	Cerebellar atrophy, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials,...	OMIM:216400
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic steno...	ORPHA:488632
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Bruising susceptibility, Hydrocephalus, Abnormal heart morphology	OMIM:227646
Zellweger Syndrome	High palate, Ventricular septal defect, Abnormality of the tongue, Micrognathia	ORPHA:912
Phace Syndrome	Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root...	ORPHA:42775
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Colpocephaly, Cerebellar vermis hypoplasia, Ventriculomegaly	OMIM:618460
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar...	ORPHA:209905
15Q Overgrowth Syndrome	Tricuspid regurgitation, Hydrocephalus, Mitral regurgitation, Pulmonary arterial hypertension, Ag...	ORPHA:314585
Keutel Syndrome	Sinusitis, Ventricular septal defect, Short hallux, Short thumb, Deep philtrum, Shortening of all...	OMIM:245150
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Optic atrophy, Optic nerve hypoplasia, Cerebellar cortical atrophy	OMIM:619321
Schinzel-Giedion Midface Retraction Syndrome	Atrial septal defect, Long clavicles, Increased density of long bones, Wide distal femoral metaph...	OMIM:269150
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ventriculomegaly	OMIM:304790
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Submu...	ORPHA:3047
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Ventriculomegaly	OMIM:241410
Leprosy	Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, Abnormality of the seventh...	ORPHA:548
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Ventriculomegaly	OMIM:615471
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Culler-Jones Syndrome	Cleft palate, Cleft upper lip	OMIM:615849
Aicardi Syndrome	Prominence of the premaxilla, Cleft upper lip, Missing ribs, Small hand, Cleft palate, Short phil...	ORPHA:50
Ehlers-Danlos Syndrome, Vascular Type	Periodontitis, Finger joint hypermobility, Ecchymosis, Premature loss of teeth, Cigarette-paper s...	OMIM:130050
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly	OMIM:619580
Mirage Syndrome	Intracranial hemorrhage, Hydrocephalus	OMIM:617053
Rabson-Mendenhall Syndrome	Mandibular prognathia, Ventricular septal defect, Dental crowding, Abnormality of the dentition, ...	ORPHA:769
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Gray matter heterotopia, Macro...	OMIM:214100
Linear Nevus Sebaceus Syndrome	Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Dandy-Walker malformation	ORPHA:2612
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal...	OMIM:607721
Holoprosencephaly 3	Holoprosencephaly, Ventriculomegaly	OMIM:142945
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple...	OMIM:618278
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Ventriculomegaly	ORPHA:348
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Mitra...	ORPHA:363700
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Na...	ORPHA:459070
Achondroplasia	Brain stem compression, Hydrocephalus	OMIM:100800
Hydranencephaly	Ventriculomegaly, Thalamic edema, Dysgenesis of the thalamus, Antenatal intracerebral hemorrhage,...	ORPHA:2177
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Angiostrongyliasis	CSF pleocytosis, Ventriculomegaly	ORPHA:74
Crane-Heise Syndrome	Ventriculomegaly	ORPHA:1512
Diamond-Blackfan Anemia 11	Bicuspid aortic valve	OMIM:614900
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Ventriculomegaly, Abnormal cortical gyration, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:300968
Native American Myopathy	Skeletal muscle atrophy, Submucous cleft soft palate, Abnormality of skeletal muscle fiber size, ...	ORPHA:168572
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Arterial rupture, Ventriculomegaly	OMIM:612394
Peroxisome Biogenesis Disorder 13A (Zellweger)	Neonatal death, Hepatomegaly, Polymicrogyria, Gray matter heterotopia	OMIM:614887
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cleft soft palate, Pectus excavatum, Cutaneou...	OMIM:606851
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Multiple joint contractures, Cardiomegaly, Raynaud pheno...	ORPHA:51
Choreoacanthocytosis	Lateral ventricle dilatation, Dilated cardiomyopathy	ORPHA:2388
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Telangiectasia of the skin, Decreased response to growth hormone stimulation test	OMIM:616007
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Thin upper lip vermilion, Ventricular septal defect, Dental crowding, High, narrow palate, Patent...	ORPHA:466791
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Decreased nerve conduction velocity, Unsteady gait, Peripheral hypom...	OMIM:618733
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Ventriculomegaly	OMIM:614749
Pyruvate Carboxylase Deficiency	Increased CSF alanine concentration, Increased CSF citrulline concentration, Cerebellar gliosis, ...	ORPHA:3008
Glycine Encephalopathy With Normal Serum Glycine	Ventriculomegaly	OMIM:617301
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Ca...	OMIM:129900
Plaa-Associated Neurodevelopmental Disorder	Abnormal cortical gyration, Ventriculomegaly, Cerebellar cortical atrophy	ORPHA:521426
Hennekam-Beemer Syndrome	Hypotension, Arrhythmia, Telangiectasia of the skin, Ventriculomegaly	ORPHA:2135
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Abnormality of the gingiva,...	ORPHA:513456
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Abnormal paranasal sinus morphology...	ORPHA:141099
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Rhabdomyosarcoma, Deep philtrum, Non-midline cleft lip, Cleft palate, Re...	ORPHA:647
Monosomy 22Q13.3	Dental crowding, Palpebral edema, Lymphedema, Dental malocclusion, Clinodactyly of the 5th finger...	ORPHA:48652
Ulnar-Mammary Syndrome	Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f...	ORPHA:3138
Vater/Vacterl Association	Occipital encephalocele, Syndactyly, Ventricular septal defect, Spina bifida, Absent radius, Esop...	OMIM:192350
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Ventriculome...	ORPHA:457359
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Ataxia, Spastic paraplegia, Hypertonia, Hypoglycorrhachia	ORPHA:168577
De Sanctis-Cacchione Syndrome	Decreased CSF 5-hydroxyindolacetic acid concentration, Olivopontocerebellar atrophy, Ventriculome...	OMIM:278800
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Spina bifida occulta, P...	OMIM:300707
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Optic atrophy, Hypotension	ORPHA:428
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Periventricular heterotopia, Enlarge...	ORPHA:261537
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Dandy-Walker malformation, Hypoplasia of the brainstem, Pachygyria, Ventricul...	OMIM:251300
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Cherry red spot of t...	OMIM:230000
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia, Varicose veins	OMIM:617107
Cryptococcosis	Abnormal retinal morphology, Peritonitis, Hydrocephalus, Vitritis, Abnormal optic nerve morpholog...	ORPHA:1546
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Gm1-Gangliosidosis, Type Ii	Ventriculomegaly	OMIM:230600
Trichohepatoneurodevelopmental Syndrome	Ventricular septal defect, Dental crowding, Patent ductus arteriosus, Short foot, Macroglossia, D...	OMIM:618268
Xfe Progeroid Syndrome	Hypertension, Ventriculomegaly	OMIM:610965
Renal Agenesis, Bilateral	Non-midline cleft lip, Cleft palate, Sirenomelia	ORPHA:1848
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Hydrocephalus, Babinski sign, Hemiparesis, Peripapillary atrophy, Tetraparesi...	OMIM:175780
Holoprosencephaly 2	Median cleft lip and palate, Aplasia of the premaxilla, Alobar holoprosencephaly, Submucous cleft...	OMIM:157170
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasi...	OMIM:604292
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Abnormal cortical gyration, Ventriculomegaly	OMIM:617527
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Patent ductus arter...	ORPHA:464306
Cockayne Syndrome B	Ataxia, Cerebellar calcifications, Abnormal peripheral myelination, Abnormal auditory evoked pote...	OMIM:133540
Fanconi Anemia, Complementation Group L	Hydrocephalus, Cerebellar hypoplasia	OMIM:614083
Joubert Syndrome 39	Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia	OMIM:619562
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Ventriculomegaly	ORPHA:73230
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu...	ORPHA:2463
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Micrognathia, Cleft lip, Patent ductus arteriosus, Furrowed tongue, Hi...	OMIM:616975
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Periventricular heterotopia, Enlarge...	ORPHA:261552
Fetal Akinesia Deformation Sequence 1	Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Polyhydramnio...	OMIM:208150
Sanjad-Sakati Syndrome	Ventriculomegaly	ORPHA:2323
Fanconi Anemia, Complementation Group C	Flexion contracture, Ventricular septal defect, Bruising susceptibility	OMIM:227645
Zttk Syndrome	Ventricular septal defect, Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductus...	OMIM:617140
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Camptodactyly, P...	OMIM:601390
Jacobsen Syndrome	Ventricular septal defect, Spina bifida, Missing ribs, Short toe, Coarctation of aorta, Abnormal ...	ORPHA:2308
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus, Decreased growth hormone responses to growth hormone-releasing hormone challenge	OMIM:101800
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Ventriculomegaly	OMIM:252160
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Hyperactivity, Bicuspid aortic valve, Ventricular septal d...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Hyperactivity, Bicuspid aortic valve, Ventricular septal d...	ORPHA:353277
Prader-Willi Syndrome	Decreased response to growth hormone stimulation test, Perisylvian polymicrogyria, Hypertension, ...	ORPHA:739
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Cleft Velum	Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Raine Syndrome	Neonatal death, Hydrocephalus	OMIM:259775
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Dilated fourth ventricle, Atrial septal defect, Ventriculomegaly, Cerebellar vermis hypoplasia, A...	ORPHA:480880
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly, Cerebellar vermis hypoplasia	OMIM:620083
Joubert Syndrome 8	Molar tooth sign on MRI, Occipital encephalocele	OMIM:612291
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Sh...	OMIM:616268
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly	OMIM:604757
Mowat-Wilson Syndrome	Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Flexion contracture, Calcane...	ORPHA:2152
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Wiedemann-Rautenstrauch Syndrome	Ataxia, Action tremor, Tremor, Congenital malformation of the left heart, Hydrocephalus, Optic at...	ORPHA:3455
Slc39A8-Cdg	Cerebellar atrophy, Ventriculomegaly, Increased CSF lactate	ORPHA:468699
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Eclabion, Thin upper lip vermilion, Reduced subcutaneous adipose tissue, Prominent fingertip pads...	OMIM:619950
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Hypoplasia of the ulna, Short metacarpal, Delayed eruption of teeth, Mit...	OMIM:143095
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Baller-Gerold Syndrome	Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Abnormal heart morphology, Chiari malformat...	OMIM:218600
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss...	ORPHA:500095
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype...	ORPHA:340
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Submucous cleft soft palate, Pulmonary arterial hypertension, Patent ductus arteriosus, Cleft sof...	ORPHA:2282
Alström Syndrome	Abnormality of dental color, Thoracic scoliosis, Gingivitis, Hepatic fibrosis, Elevated gamma-glu...	ORPHA:64
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Dilated cardiomyopathy, Flexion contracture, Foot joint contracture	ORPHA:79408
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia, Spasticity	OMIM:618797
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left sub...	ORPHA:438213
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Campomelic Dysplasia	Spina bifida, Polyhydramnios, Contracture of the distal interphalangeal joint of the fingers, Hyd...	OMIM:114290
Acute Disseminated Encephalomyelitis	Abnormal spinal cord morphology, Increased CSF protein concentration, Myelitis, CSF lymphocytic p...	ORPHA:83597
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Weakness of facial musculature, Ventricular septal defect, Ventriculomegaly	OMIM:619418
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly, Enlarged cerebellum	ORPHA:477993
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal spinal cord morphology, Flexion contracture of finger, Camptodactyly	ORPHA:88628
Branchiooculofacial Syndrome	Facial palsy, Micrognathia, Cleft upper lip, Short thumb, Lower lip pit, Cleft of chin, Elbow fle...	OMIM:113620
Split Cord Malformation	Paraparesis, Myelomeningocele, Lipomyelomeningocele, Hydrocephalus, Meningocele, Cervical spina b...	ORPHA:573278
Alagille Syndrome 1	Hypoplasia of the ulna, Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery ste...	OMIM:118450
Distal Deletion 6P	Ventriculomegaly	ORPHA:96125
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Bicuspid aortic valve, Splenomegaly, Hepatosplenomegaly, Mitral regurgitation, Aortic valve stenosis	OMIM:613563
Joubert Syndrome 5	Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm...	OMIM:610188
Craniotubular Dysplasia, Ikegawa Type	Short palm, Ventricular septal defect, Thick lower lip vermilion, Long philtrum, Thick upper lip ...	OMIM:619727
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malfo...	ORPHA:1052
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Hydrocephalus, Hypertension, Stillbirth, Chiari m...	ORPHA:95699
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He...	ORPHA:906
X-Linked Cerebral Adrenoleukodystrophy	Myelopathy, Abnormal spinal cord morphology, Facial myokymia, Hamstring contractures	ORPHA:139396
Wiedemann-Rautenstrauch Syndrome	Secundum atrial septal defect, Hydrocephalus, Hypertonia, Chiari malformation, Truncal ataxia, Ag...	OMIM:264090
Dubowitz Syndrome	Hydrocephalus, Spina bifida occulta	ORPHA:235
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Encephalocraniocutaneous Lipomatosis	Pulmonary arterial hypertension, Aortic valve stenosis, Agenesis of corpus callosum, Ventriculome...	ORPHA:2396
Knobloch Syndrome 1	Cerebellar atrophy, Occipital encephalocele, Occipital meningocele, Spina bifida occulta, Polymic...	OMIM:267750
Treacher Collins Syndrome 1	Cleft soft palate, Cleft palate, Abnormal heart morphology, Wide mouth, Abnormal parotid gland mo...	OMIM:154500
Degcags Syndrome	Smooth philtrum, Ventricular septal defect, Micrognathia, Protruding tongue, Short thumb, Patent ...	OMIM:619488
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Bicuspid aortic valve, Aggressive behavior, Secundum atrial septal defect, Patent ductus arterios...	OMIM:613355
Adrenomyeloneuropathy	Atrophy of the spinal cord, Abnormal spinal cord morphology, Dorsal column degeneration, Leg musc...	ORPHA:139399
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum, Anterior pituitary hypoplasia, Ventriculomegaly	ORPHA:264200
Coffin-Siris Syndrome 12	Facial palsy, Enlarged cerebellum, Noncommunicating hydrocephalus, Chiari malformation, Tetralogy...	OMIM:619325
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Humeroradial synostosis, Abnormal rib morphology, Hypoplasia of ...	ORPHA:3404
Holoprosencephaly 1	Median cleft lip and palate, Ethmocephaly, Alobar holoprosencephaly, Single ventricle	OMIM:236100
Mowat-Wilson Syndrome	Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Patent ductus arter...	OMIM:235730
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ...	ORPHA:69085
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Microphthalmia, Syndromic 1	Bicuspid aortic valve, Dental crowding, Cleft upper lip, High, narrow palate, Agenesis of maxilla...	OMIM:309800
Yunis-Varon Syndrome	Micrognathia, Short metatarsal, Short philtrum, Absent hallux, High palate, Patent foramen ovale,...	OMIM:216340
Penile Agenesis	Atrial septal defect, Ventricular septal defect, Oligohydramnios	ORPHA:49
Congenital Myopathy 13	Ventriculomegaly	OMIM:255995
Neurofibromatosis Type 1	Ataxia, Hydrocephalus, Paresthesia, Pheochromocytoma, Plexiform neurofibroma, Spinal neurofibroma	ORPHA:636
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Agenesis of corpus callosum, Facial palsy	ORPHA:2658
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Perisylvian polymicrogyria, Ventriculomegaly	OMIM:610442
Progeroid Short Stature With Pigmented Nevi	Aortic valve stenosis, Bicuspid aortic valve	OMIM:176690
Genitopatellar Syndrome	Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:606170
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Achalasia, Ineffective esophageal peristalsis, Sinus bradycardia	OMIM:619482
Ring Chromosome 7 Syndrome	Abnormal cerebellum morphology, Heart murmur, Holoprosencephaly, Ventriculomegaly	ORPHA:1449
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Coarctation of aorta, Muscle hypertrop...	ORPHA:1772
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum, Plexiform neurofibroma	OMIM:276300
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Ventricular septal defect, Carious teeth, Short thumb, Patent ductus arteriosus, Short foot, Down...	OMIM:619522
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Broad-based gait, Polymicrogyria, Periventricular nodular heterotopia	OMIM:618918
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Adrenocortic...	ORPHA:293987
Trichorhinophalangeal Syndrome, Type Ii	Scapular winging, Internal carotid artery dissection, Bicuspid aortic valve, Cerebral arterioveno...	OMIM:150230
Wilson Disease	Face of the giant panda sign	OMIM:277900
Proteus Syndrome	Decreased muscle mass, Sudden cardiac death, Pulmonary embolism, Enlarged polycystic ovaries, Spl...	ORPHA:744
Primary Sjögren Syndrome	Myositis, Raynaud phenomenon, Abnormal spinal cord morphology, Vasculitis, Arteritis	ORPHA:289390

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Myh10

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Myh10.

No publications found that use IMPC mice or data for Myh10.

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MGI Allele	Allele Type	Produced
Myh10^em1(IMPC)J	Indel	Mice
Myh10^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Myh10 MGI:1930780

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E12.5

Eye Morphology

X-ray

Sleep Wake

Electroretinography 2

Auditory Brain Stem Response

Human diseases caused by Myh10 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data