banner
Genes Phenotypes Help, News, Blog

Gene: Myh10 MGI:1930780

Log in to follow

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,  SMemb,  nonmuscle myosin heavy chain IIB,  Myhn-2,  Fltn,  Myosin IIB

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
hemorrhage Myh10em1(IMPC)J HOM E12.5 0.00
preweaning lethality, complete penetrance Myh10em1(IMPC)J HOM   Early adult 0.00
prenatal lethality prior to heart atrial septation Myh10em1(IMPC)J HOM   E15.5 0.00
embryonic growth retardation Myh10em1(IMPC)J HOM E12.5 0.00
hemorrhage Myh10em1(IMPC)J HOM E15.5 0.00
abnormal skin coloration Myh10em1(IMPC)J HOM E15.5 0.00
abnormal pericardium morphology Myh10em1(IMPC)J HOM E12.5 0.00
increased fasting circulating glucose level Myh10em1(IMPC)J HET Early adult 3.67×10-05
edema Myh10em1(IMPC)J HOM E15.5 0.00
abnormal placenta size Myh10em1(IMPC)J HOM E15.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

View images
X-ray

XRay Images Skull Lateral Orientation

9 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

View images
X-ray

XRay Images Forepaw

9 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View images
Eye Morphology

Images Ophthalmoscopy

8 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View images
Sleep Wake

Wake state (bmp file)

1 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

View images

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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Perisylvian polymicrogyria, Enlarged sylvian cistern 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
Gray matter heterotopia, Ventriculomegaly, Pachygyria, Hypoplasia of the brainstem, Cerebellar hy... OMIM:607432
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Hydrocephalus OMIM:123155
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Chudley-Mccullough Syndrome
Polymicrogyria, Cerebellar dysplasia, Partial agenesis of the corpus callosum, Hydrocephalus, Ven... OMIM:604213
Band Heterotopia
Polymicrogyria, Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Gray matter hetero... OMIM:600348
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Hydrocephalus 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
Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Dilated fourth ventricle, Hy... OMIM:220200
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Cleft palate, Double outlet right ventricle, Microg... OMIM:231060
Ethanolaminosis
Cardiomegaly OMIM:227150
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Gray matter heterotopia, Ventriculomegaly, Pachygyria, Agyria ORPHA:1084
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, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Polymicrogyria, Hydrocephalus OMIM:615937
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Ventriculome... OMIM:615763
Cardiomyopathy, Dilated, 1M
Reduced left ventricular ejection fraction, Impaired myocardial contractility, Congestive heart f... OMIM:607482
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Ventriculomegaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Lis... OMIM:618677
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Neural tube defect, Cerebellar dysplasia OMIM:615041
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Familial Median Cleft Of The Upper And Lower Lips
Abnormality of orbicularis oris muscle, Diastema, Irregular dentition, Abnormal mandible morpholo... ORPHA:401942
Cardiomyopathy, Dilated, 2A
Cardiomyocyte hypertrophy, Myofiber disarray, Congestive heart failure, Increased left ventricula... OMIM:611880
Lissencephaly 3
Polymicrogyria, Spastic tetraplegia, Ataxia, Gray matter heterotopia, Ventriculomegaly, Pachygyri... OMIM:611603
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Microlissencephaly
Polymicrogyria, Simplified gyral pattern, Ventriculomegaly, Subcortical heterotopia, Pachygyria, ... ORPHA:1083
Porencephaly
Ventriculomegaly ORPHA:2940
Cardiomyopathy, Dilated, 1W
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... 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
Periventricular nodular heterotopia, Inability to walk, Spastic paraplegia, Cerebellar hypoplasia... OMIM:618572
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly ORPHA:171703
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... OMIM:604765
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly OMIM:612900
Spinocerebellar Ataxia Type 41
Gait ataxia, Cerebellar vermis atrophy ORPHA:458798
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Polymicrogyria, Ventriculomegaly, Pachygyria, Hypoplasia of the brainstem, Lissencephaly, Cerebel... OMIM:618730
Polymicrogyria, Bilateral Temporooccipital
Polymicrogyria, Ventriculomegaly OMIM:612691
Omphalocele
Omphalocele ORPHA:660
Cardiomyopathy, Dilated, 2D
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Mitral regurgitation, Reduced lef... OMIM:619371
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia, Cerebellar vermis atrophy, Cerebellar atrophy OMIM:616410
Intellectual Developmental Disorder, X-Linked 103
Polymicrogyria, Lateral ventricle dilatation OMIM:300982
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Stroke, Reduced left ventricular ejection fraction, Hepatomegaly, Ventricular hyp... OMIM:115197
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Cerebellar atrophy, Broad-based gait, Dysdiadochokinesis OMIM:605388
Periventricular Nodular Heterotopia 8
Spasticity, Cerebellar vermis atrophy, Periventricular nodular heterotopia OMIM:618185
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:615235
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormality of neuronal migration, Hydrocephalus OMIM:618709
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spasticity, Abnormal pons morphology, Difficulty walking, Progressive spastic paraple... ORPHA:171622
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Lissencephaly 4
Colpocephaly, Simplified gyral pattern, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus ... OMIM:614019
Congenital Gerbode Defect
Elevated right atrial pressure, Pulmonary arterial hypertension, Systolic heart murmur, Pulmonic ... ORPHA:99095
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... OMIM:601493
Thoracoabdominal Syndrome
Ventral hernia, Omphalocele, Cleft palate, Anencephaly, Ectopia cordis, Patent ductus arteriosus,... OMIM:313850
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Abnormal cerebellar vermis morphology, Cerebellar hypoplasia, Hydrocephalus ORPHA:2703
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dilatati... ORPHA:300573
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Left atrial enlargement, Dea... OMIM:619424
Cardiomyopathy, Dilated, 1Ff
Increased left ventricular end-diastolic volume, Severely reduced left ventricular ejection fract... OMIM:613286
Autosomal Spastic Paraplegia Type 30
Distal sensory impairment, Somatic sensory dysfunction, Unsteady gait, Ataxia, Progressive spasti... ORPHA:101010
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Gray matter heterotopia, Dysgyria,... ORPHA:352682
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy, Slurred speech, Incoordination ORPHA:98766
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Jaundice, Third heart sound, Global systolic dysfunction,... ORPHA:57777
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young OMIM:613370
Spastic Paraplegia 88, Autosomal Dominant
Agenesis of cerebellar vermis, Hypoplasia of the brainstem, Cerebellar hypoplasia, Ventriculomegaly OMIM:620106
Cardiomyopathy, Dilated, 1Ee
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613252
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617769
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Cerebellar atrophy, Trunca... OMIM:615268
Cardiomyopathy, Dilated, 1L
Reduced left ventricular ejection fraction, Sudden cardiac death, Reduced systolic function, Cong... OMIM:606685
Spinocerebellar Ataxia Type 30
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia ORPHA:211017
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... OMIM:612158
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Pierre Robin Syndrome
Cleft palate, Glossoptosis, Cor pulmonale, Micrognathia, Pierre-Robin sequence OMIM:261800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spasticity, Frequent falls, Ataxia, Impaired distal vibration sensation, Chiari type I malformati... OMIM:619742
Congenital Heart Defects, Multiple Types, 5
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... OMIM:617912
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Spina bifida, Ventricular septal defect, Anencephaly, Cleft palate, Non-m... ORPHA:2476
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... OMIM:613172
Arterial Calcification, Generalized, Of Infancy, 2
Coronary artery calcification, Mitral regurgitation, Reduced left ventricular ejection fraction, ... OMIM:614473
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Spinocerebellar Ataxia 43
Distal sensory impairment, Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia, Cerebellar vermis ... OMIM:617018
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Dandy-Walker malformation, Cerebellar hypoplasia, Hydrocephalus ORPHA:1538
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Optic atrophy, Ventriculomegaly, Olivopontocerebellar atrophy, Hypertonia ORPHA:2732
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Type II lissencephaly, Cerebellar hypoplasia, Hydrocephalus OMIM:614830
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... OMIM:613642
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Increased variability in... OMIM:302045
Limb Body Wall Complex
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Cleft palate, Cutaneo... ORPHA:2369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Aplasia of the inferior half of the cerebellar vermis, Type II lissencephaly, Hydrocephalus, Hypo... OMIM:613154
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy ORPHA:217012
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617133
Isolated Right Ventricular Hypoplasia
Systolic heart murmur, Atrial septal defect, Right ventricular failure, Abnormal atrioventricular... ORPHA:439
Cardiomyopathy, Dilated, 1Hh
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy OMIM:613881
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Vascular dil... OMIM:600884
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Frequent falls, Torticollis, Ataxia, Sensory axonal neuropathy, Cerebellar vermis atrophy, Increa... OMIM:619054
Mmep Syndrome
Median cleft lip, Mandibular prognathia, Orofacial cleft, Ventricular septal defect ORPHA:3434
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Difficulty walking, Tremor, Gait ataxia, Cerebellar atrophy ORPHA:423296
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... OMIM:615396
Nephrosialidosis
Bone-marrow foam cells, Pericardial effusion, Ascites OMIM:256150
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Hypotension, Aortic aneurysm, Right atrial enlargemen... OMIM:612422
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Partial agenesis of the corpus callosum, Ataxia, Subcortical band heterotopia, Focal polymicrogyr... OMIM:615771
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Ataxia, Tremor, Cerebellar atrophy OMIM:615945
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopa... OMIM:615248
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Calf muscle hypertrophy, Cardiomyopathy, EMG: myopathic abnormalities, Scapular winging, Increase... OMIM:608099
Cardiomyopathy, Familial Hypertrophic, 26
Prolonged QTc interval, Stroke, Left anterior fascicular block, Mitral regurgitation, Left atrial... OMIM:617047
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:117210
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:609909
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Phenobarbital Embryopathy
Tetralogy of Fallot, Malar flattening, Unilateral cleft lip, Aplasia/Hypoplasia of fingers, Mandi... ORPHA:1919
Cardiomyopathy, Dilated, 1X
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611615
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... OMIM:613694
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy OMIM:616500
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Cerebellar atrophy, Ataxia, Ventriculomegaly OMIM:613402
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Limb ataxia, Unsteady gait, Ataxia, Tremor, Gait ataxia, Cerebellar vermis atrophy, C... OMIM:213200
Pontocerebellar Hypoplasia, Type 12
Cerebellar hypoplasia, Hypoplasia of the brainstem, Lateral ventricle dilatation OMIM:618266
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure, Death in infancy OMIM:212080
Congenital Heart Defects, Multiple Types, 6
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis,... OMIM:613854
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Reduced left ventricular ejection fraction, Distal lower limb muscle weakness, Achilles tendon co... OMIM:181350
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy, Neoplasm of the heart ORPHA:3283
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Constricting Bands, Congenital
Encephalocele, Hand polydactyly, Syndactyly, Abnormal rib cage morphology, Cleft palate, Omphaloc... OMIM:217100
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Ventriculomegaly ORPHA:1980
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Stroke, Mitral regurgitation, Left atrial enlargement, Syncope, Pu... ORPHA:75249
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Scapular winging, Pelvic... OMIM:604286
Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyocyte hypertrophy, Pulmonary arterial hypertension, Apical hypertrophic cardiomyopathy, L... OMIM:613255
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Oculomotor apraxia, Unsteady gait, Inability to walk, Simplified gyral pattern, Ventriculomegaly,... OMIM:618273
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Overriding aorta, Doub... ORPHA:3304
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Sudden cardiac death, Ventriculomegaly OMIM:115210
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Arrhythmia, Capillary leak, Abnormal heart morphology,... ORPHA:1041
Holoprosencephaly 5
Hydrocephalus, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, La... OMIM:609637
Diprosopus
Cleft palate, Abnormal cardiac septum morphology, Non-midline cleft lip, Anencephaly ORPHA:1681
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... OMIM:618773
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Inferior cerebellar vermis hypoplasia, Inability to walk, Retrocerebella... OMIM:614831
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... ORPHA:98769
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Mitral regurgitation, Monomorphic ventricular tachycardia, Left atrial... OMIM:619897
Aorta Coarctation
Stroke, Pulmonary arterial hypertension, Hypoplastic left heart, Coarctation of the descending ao... ORPHA:1457
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Cerebellar agenesis, Holoprosencephaly, Ventriculomegaly, Cerebel... OMIM:617967
Congenital Heart Defects, Multiple Types, 4
Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atr... OMIM:615779
Ventricular Septal Defect 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... OMIM:614429
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Cerebellar atrophy, Ataxia OMIM:614706
Heart-Hand Syndrome, Slovenian Type
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... ORPHA:168796
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Ataxia, Gait ataxia, Babinski sign, Optic atrophy, Cerebellar atrophy, Lower limb sp... OMIM:614322
Myopathy, Distal, 1
Tibialis anterior muscle atrophy, Left atrial enlargement, Distal lower limb muscle weakness, Typ... OMIM:160500
Epilepsy, Progressive Myoclonic, 11
Ataxia, Rigidity, Intention tremor, Giant somatosensory evoked potentials, Myoclonus, Cerebellar ... OMIM:618876
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Progressive cerebellar ataxia, Difficulty walking, Clumsiness, Progressive gait ataxi... ORPHA:284332
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Cardiac Diverticulum
Abnormality of the diaphragm, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defec... ORPHA:1686
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly OMIM:619501
Holzgreve Syndrome
Cleft upper lip, Hypoplastic left heart, Cleft palate OMIM:236110
Congenital Muscular Dystrophy Without Intellectual Disability
Frequent falls, Difficulty walking, Facial diplegia, Cerebellar cyst, Tip-toe gait, Ventriculomeg... ORPHA:370980
Cardiomyopathy, Dilated, 1K
Gallop rhythm, Congestive heart failure, Dilated cardiomyopathy OMIM:605582
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Difficulty walking, Pseudobulbar paralysis, Impaired proprioception, Loss of... OMIM:613908
Barth Syndrome
Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... OMIM:612877
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Diamond-Blackfan Anemia 6
Retrognathia, Short thumb, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, ... OMIM:612561
Conotruncal Heart Malformations
Coarctation of aorta, Complete atrioventricular canal defect, Double outlet right ventricle, Trun... OMIM:217095
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... 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
Type II lissencephaly, Agenesis of cerebellar vermis, Cerebellar dysplasia, Agenesis of corpus ca... OMIM:613153
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Lissencephaly 5
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Gray matter heterotopia, Spastic p... OMIM:615191
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Reduced left ventricular ejection fraction, Death in infancy, Neonatal death,... OMIM:614096
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Thenar muscle atrophy, Dilated cardiomyop... OMIM:619903
Spinocerebellar Ataxia 18
Sensory axonal neuropathy, Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Ce... OMIM:607458
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Ataxia, Ventriculomegaly, Upper limb spasticity, Hypertonia, Cerebellar atrophy, Lower limb spast... OMIM:613925
Nescav Syndrome
Spasticity, Inability to walk, Ataxia, Peripheral axonal neuropathy, Cerebellar vermis atrophy, A... OMIM:614255
Atrial Standstill
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... ORPHA:1344
Pericardial And Diaphragmatic Defect
Pectus excavatum, Aplasia of the left hemidiaphragm, Tetralogy of Fallot, Atrial septal defect, P... ORPHA:2847
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly ORPHA:1568
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Congenital malformation of the great arteries, Abnormal hip bone morphology, Syndact... ORPHA:294975
Spinocerebellar Ataxia 23
Limb ataxia, Impaired vibration sensation in the lower limbs, Tremor, Gait ataxia, Impaired dista... OMIM:610245
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Ataxia, Unsteady gait, Ankle clonus, Dysdiadochokinesis, Tremor, Gait at... OMIM:616053
Spinocerebellar Ataxia 38
Limb ataxia, Ataxia, Peripheral axonal neuropathy, Tremor, Gait ataxia, Cerebellar vermis atrophy... OMIM:615957
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Polymicrogyria, Dysplastic corpus callosum, Hypoplasia of the brainstem, Agenesis o... ORPHA:250972
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm, Omphalocele OMIM:601163
Atrial Septal Defect, Ostium Primum Type
Tricuspid regurgitation, Atrial fibrillation, Pulmonary artery dilatation, Pulmonary arterial hyp... ORPHA:99106
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Unsteady gait, Ataxia, Lower limb spasticity, Intention tremor, Cerebell... OMIM:616948
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Muscular dystrophy, Abn... ORPHA:34515
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Ventriculomegaly, Gait ataxia, Slurred speech, Optic atrophy, Cerebellar atrophy OMIM:619323
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a... OMIM:613697
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Cerebellar hypoplasia, Babinski sign, Truncal ataxia, Dysmetria OMIM:617584
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Ventricular septal defect, Abnormal hip bone morphology, Cle... ORPHA:1166
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Ankle clonus, Peripheral axonal neuropathy, Spastic paraplegia, Spastic gait, Babinski si... OMIM:610357
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Congenital Heart Defects, Multiple Types, 2
Ventricular septal defect, Tetralogy of Fallot, Left ventricular outflow tract obstruction, Aorti... OMIM:614980
Moyamoya Disease
Telangiectasia, Ventriculomegaly ORPHA:2573
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Paroxysmal atrial fibrillation, Reduced left ventricular ... ORPHA:1677
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Atrial septal defect, Ventricular septal defect, Distal amyotrophy, Aortic aneurysm, Abnormal hea... ORPHA:477817
Spastic Ataxia-Corneal Dystrophy Syndrome
Gait disturbance, Ataxia, Hemiplegia/hemiparesis, Spastic ataxia, Aplasia/Hypoplasia of the cereb... ORPHA:2572
Alexander Disease
Spasticity, Ataxia, Increased CSF protein concentration, Hydrocephalus, Palatal tremor, Abnormal ... OMIM:203450
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating aspartate aminotransferase concentration, Left ventricular hypertrophy, Elev... OMIM:619048
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Mandibular prognathia, Abnormal aortic arch morphology, Overriding ao... ORPHA:1110
Congenital Tricuspid Valve Dysplasia
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hep... ORPHA:555874
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:618189
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Inferior cerebellar vermis hypoplasia, Broad-based gait, Simplified gyral pattern, Dysdiadochokin... OMIM:224050
Brain Small Vessel Disease 2
Polymicrogyria, Intracranial hemorrhage, Subcortical heterotopia, Ventriculomegaly OMIM:614483
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Abnormality of the shoulder girdle musculature, Absent muscle dystr... ORPHA:206546
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... OMIM:613426
Autosomal Recessive Amelia
Acromelia of the lower limbs, Amelia involving the upper limbs, Non-midline cleft lip, Micrognath... ORPHA:1027
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Atrial septal defect, Hydrocephalus, Communicating hydrocephalus, Right atrial enla... OMIM:615219
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Overriding aorta, Thin upper lip vermilion, Pate... OMIM:601927
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Anterior encephalocele, Ventricular septal defect, Holoprosencephaly, Short fe... OMIM:601357
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Pulmonic stenosis, Right atrial enlargement, Right ventricular h... OMIM:616028
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Spastic tetraplegia, Inability to walk, Ataxia, Hydrocephalus, Pachygyria, Cerebellar hypoplasia,... OMIM:618174
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Dpm3-Cdg
Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness, Dilated cardiomyopathy, Calf ... ORPHA:263494
Spinocerebellar Ataxia, Autosomal Recessive 33
Frequent falls, Broad-based gait, Simplified gyral pattern, Head titubation, Gait ataxia, Intenti... OMIM:620208
Nemaline Myopathy 9
High palate, Ventricular septal defect, Nemaline bodies, Cleft palate, Micrognathia, Arthrogrypos... OMIM:615731
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Ventriculomegaly, Cerebellar malfo... ORPHA:324416
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria, Neonatal death OMIM:614870
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Ventricular septal defect, Left ventri... ORPHA:860
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Rimmed vacuoles, Dilated cardiomyopathy,... OMIM:300718
Tricuspid Atresia
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Ventricular septal... ORPHA:1209
Pontocerebellar Hypoplasia, Type 15
Spastic tetraplegia, Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral pat... OMIM:619302
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait ataxia, Gait imbalance, Cerebellar atrophy, Trun... OMIM:604432
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Perimembranous ve... OMIM:618782
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Cerebellar atrophy, Truncal ataxia OMIM:611726
Microphthalmia, Syndromic 12
Ventricular septal defect, Cleft palate, Neonatal death, Congenital diaphragmatic hernia, Hypopla... OMIM:615524
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Tetraparesis, Polymicrogyria, Hemiparesis, Partial agenesis of the corpus callosum, Pachygyria, C... OMIM:610031
Lichtenstein-Knorr Syndrome
Limb ataxia, Ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar vermis atrophy, Action tremor, C... OMIM:616291
Recombinant Chromosome 8 Syndrome
Camptodactyly, Abnormality of the dentition, Pulmonic stenosis, Atrial septal defect, Tetralogy o... OMIM:179613
Dystonia With Cerebellar Atrophy
Torticollis, Cerebellar atrophy, Progressive cerebellar ataxia OMIM:611694
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Myopathy, Weakness of facial musculature, Arrhythmia, Severely reduced left ve... OMIM:611705
Kagami-Ogata Syndrome
Diastasis recti, Pulmonary arterial hypertension, Inguinal hernia, Pulmonic stenosis, Atrial sept... OMIM:608149
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Encephalocele, Pulmonary artery atresia, Spinal dysraphism, Tetralogy of ... ORPHA:1908
Spinocerebellar Ataxia 46
Limb ataxia, Sensory axonal neuropathy, Gait ataxia, Positive Romberg sign, Cerebellar atrophy, D... OMIM:617770
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Facial palsy, Restrictive cardiomyopathy, Dilated cardiomyopathy, H... OMIM:601419
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Gait disturbance, Falls, Cogwheel rigidity, Dysdiadochokinesis, Trem... ORPHA:363710
Neurodegeneration With Brain Iron Accumulation
Spasticity, Abnormality of extrapyramidal motor function, Rigidity, Chorea, Optic atrophy, Cerebe... ORPHA:385
Microphthalmia-Brain Atrophy Syndrome
Atrophy/Degeneration affecting the brainstem, Cerebellar vermis atrophy, Abnormal pons morphology... ORPHA:77299
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Unsteady gait, Ankle clonus, Tremor, Cerebellar hypoplasia, Babinski sig... OMIM:615768
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede... OMIM:617300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyopathy, Increased vari... OMIM:612937
Fixed Subaortic Stenosis
Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defect, Left ventricula... ORPHA:3092
Congenital Myopathy 8
High palate, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber atrop... OMIM:618654
Intellectual Developmental Disorder, Autosomal Recessive 69
Spasticity, Ataxia, Cerebellar hypoplasia, Ventriculomegaly OMIM:618383
Gómez-López-Hernández Syndrome
Impaired pain sensation, Ataxia, Hydrocephalus, Abnormal cerebellum morphology, Cerebellar vermis... ORPHA:1532
Microcephaly 5, Primary, Autosomal Recessive
Simplified gyral pattern, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly OMIM:608716
Atrial Septal Defect, Coronary Sinus Type
Stroke, Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular failure, Unroof... ORPHA:99104
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Muscular dystrophy, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden ... ORPHA:300751
Spinocerebellar Ataxia, Autosomal Recessive 15
Gait ataxia, Cerebellar atrophy, Unsteady gait, Ataxia OMIM:615705
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Oligohydramnios, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion... OMIM:614702
Congenital Hydrocephalus
Colpocephaly, Abnormal cortical gyration, Hydrocephalus, Ventriculomegaly, Lissencephaly ORPHA:2185
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Ataxia, Optic disc pallor, Peripheral axonal neuropathy, Cerebellar vermis atr... OMIM:619389
Acalvaria
Spina bifida, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Abnormality... ORPHA:945
Ceroid Lipofuscinosis, Neuronal, 8
Myoclonus, Loss of ambulation, Cerebellar atrophy, Ataxia OMIM:600143
Congenital Disorder Of Glycosylation, Type Iid
Dandy-Walker malformation, Hydrocephalus OMIM:607091
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
Pentalogy Of Cantrell
Encephalocele, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal ste... ORPHA:1335
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Partial Atrioventricular Septal Defect
Hypoplastic left heart, Bacterial endocarditis, Tetralogy of Fallot, Transient ischemic attack, A... ORPHA:1330
Cardiomyopathy, Dilated, 2B
Congestive heart failure, Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Thomas Syndrome
Cleft upper lip, Hypoplastic left heart, Cleft palate ORPHA:3316
Ritscher-Schinzel Syndrome 1
Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular... OMIM:220210
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Tetralogy of Fallot, Atrial septal defect, Ventricular hypertrop... OMIM:300887
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, High palate, Proximal amyotrophy, Fourth heart sound, Right axis dev... OMIM:255160
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Ataxia, Clumsiness, Gait ataxia, Intention tremor, Cerebellar atrophy, Dysmetria OMIM:608029
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Metaphyseal widening, Polyhydramnios, Abnormal heart morphology, Om... OMIM:263210
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Atypical Teratoid Rhabdoid Tumor
Cerebral palsy, Hemiplegia/hemiparesis, Ataxia, Hydrocephalus ORPHA:99966
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Proximal placement of thumb, Ventricular septal defect, Abnormal ... ORPHA:93267
Atrial Septal Defect, Ostium Secundum Type
Stroke, Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Sup... ORPHA:99103
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Long fingers, Smooth philtr... OMIM:618316
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Spasticity, Oculomotor apraxia, Ataxia, Dilated fourth ventricle, Tremor, Gait ataxia, Cerebellar... ORPHA:1170
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Chylopericardium, Tricuspid ... ORPHA:2414
Coffin-Siris Syndrome 3
Macroglossia, High palate, Inguinal hernia, Umbilical hernia, Delayed eruption of permanent teeth... OMIM:614608
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Subcortical band heterotopia OMIM:615411
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Myopathy, Facial palsy, Dilated cardiomyopathy, Type 1 fibers relative... OMIM:300580
Cardiomyopathy, Familial Hypertrophic, 14
Death in middle age, Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outf... OMIM:613251
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Left ventricular systolic dysfuncti... ORPHA:206559
Poretti-Boltshauser Syndrome
Oculomotor apraxia, Cerebellar dysplasia, Cerebellar cyst, Gray matter heterotopia, Dilated fourt... OMIM:615960
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Coarctation of aorta, Short thumb, Atrial septal defect, Proximal... ORPHA:1120
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Simplified gyral pattern, Lateral ventricle dilatation OMIM:617668
Corpus Callosum, Partial Agenesis Of, X-Linked
Spasticity, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Hydro... OMIM:304100
Masa Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:2466
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Spinal muscular atrophy, type I, with congenital bone fractures
High palate, Pectus excavatum, Congenital hip dislocation, Decreased muscle mass, Arachnodactyly,... OMIM:271225
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Umbilical hernia, Aplasia of the middle phalanx ... OMIM:615297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Polymicrogyria, Cerebellar dysplasia, Hydrocephalus, Hypoplasia of the pon... OMIM:615181
Spinocerebellar Ataxia Type 35
Limb ataxia, Torticollis, Progressive cerebellar ataxia, Difficulty walking, Pseudobulbar paralys... ORPHA:276193
Multiple Mitochondrial Dysfunctions Syndrome 5
Pachygyria, Ventriculomegaly OMIM:617613
Cleft Lip With Or Without Cleft Palate
Chronic sinusitis, Median cleft lip and palate, Median cleft lip, Non-midline cleft lip, Non-midl... ORPHA:1991
Joubert Syndrome 30
Dandy-Walker malformation, Gray matter heterotopia, Ventriculomegaly, Superior cerebellar dysplas... OMIM:617622
Neurodegeneration With Brain Iron Accumulation 8
Unsteady gait, Ataxia, Loss of ambulation, Tremor, Cerebellar atrophy, Dysmetria OMIM:617917
Triploidy
Macroglossia, Intestinal malrotation, Meningocele, Polyhydramnios, Finger syndactyly, Hepatomegal... ORPHA:3376
Joubert Syndrome 3
Frontal polymicrogyria, Elongated superior cerebellar peduncle, Lateral ventricle dilatation, Mol... OMIM:608629
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Myoclonus, Ataxia OMIM:616187
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Hypoplasia of the brainstem, Cerebellar hypoplasia, Ventriculomegaly OMIM:616486
Craniotelencephalic Dysplasia
Frontal encephalocele, Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Cerebellar hypoplas... ORPHA:1528
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Muscular dystrophy, Skeletal muscle atrophy, Reduced systolic function, Triangular ... OMIM:616827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Cerebellar dysplasia, Hydrocephalus, Cardiomyopathy, Facial palsy, Cerebellar ... OMIM:613155
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation OMIM:615889
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test, Ventriculomegaly ORPHA:1261
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Right aortic arch, Total anomalous ... OMIM:614779
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Anasarca, Cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Hypote... OMIM:261740
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal heart valve morphology, Ventr... ORPHA:3400
Myopathy, Myofibrillar, 3
Distal amyotrophy, Cardiomyopathy, Myofibrillar myopathy, Achilles tendon contracture, Muscle fib... OMIM:609200
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Ataxia-Telangiectasia-Like Disorder
Frequent falls, Oculomotor apraxia, Ataxia, Dilated fourth ventricle, Dysdiadochokinesis, Chorea,... ORPHA:251347
Sonoda Syndrome
Narrow mouth, Ventricular septal defect OMIM:270460
Fried Syndrome
Abnormal cerebellum morphology, Gait disturbance, Spastic diplegia, Hydrocephalus ORPHA:85335
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Left atrial enlargement, Left ventricular hypertrophy, Reduced left ventricular e... OMIM:608751
Glycogen Storage Disease 0, Muscle
Stroke, Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle g... OMIM:611556
Lissencephaly, X-Linked, 1
Spasticity, Ataxia, Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Agenesis of corpu... OMIM:300067
Trisomy 1Q
Increased nuchal translucency, Camptodactyly of finger, Anal atresia, Short thorax, Ventricular s... ORPHA:261344
Microcephaly 17, Primary, Autosomal Recessive
Microlissencephaly, Simplified gyral pattern, Ventriculomegaly, Hypoplasia of the brainstem, Cere... OMIM:617090
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:616198
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Pectus excavatum, Generalized edema, Edema, Atrial septal defect, Poly... OMIM:616843
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Right bundle branch block, Mitral regurgitation, Left atr... ORPHA:75566
14Q11.2 Microdeletion Syndrome
High palate, Ventricular septal defect, Deep philtrum, Everted lower lip vermilion, Narrow mouth,... ORPHA:261120
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Simplified gyral pattern, Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle... OMIM:619244
Fibrochondrogenesis 1
Long clavicles, Thin ribs, Broad long bones, Cleft palate, Narrow mouth, Patent foramen ovale, Po... OMIM:228520
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Atrial septal def... ORPHA:216694
Ehlers-Danlos Syndrome, Periodontal Type, 2
Inguinal hernia, Gingival bleeding, Prominent superficial veins, Colon cancer, Bruising susceptib... OMIM:617174
Eisenmenger Syndrome
Stroke, Clubbing, Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Bacte... ORPHA:97214
Carpenter Syndrome 1
Agenesis of permanent teeth, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect... OMIM:201000
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Camptodactyly of finger, Ventricular septal defect ORPHA:1937
Spinocerebellar Ataxia, Autosomal Recessive 18
Oculomotor apraxia, Ataxia, Optic disc pallor, Dysdiadochokinesis, Gait ataxia, Cerebellar vermis... OMIM:616204
Coronary Arterial Fistula
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Angina pectoris, Patent ... ORPHA:2041
Adult-Onset Nemaline Myopathy
Myopathy, Lower limb muscle weakness, Type 1 muscle fiber predominance, EMG: myopathic abnormalit... ORPHA:171442
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Perisylvian polymicrogyria, Cerebe... OMIM:616531
Spinocerebellar Ataxia 49
Unsteady gait, Ataxia, Sensory axonal neuropathy, Loss of ambulation, Abnormality of extrapyramid... OMIM:619806
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Unsteady gait, Ataxia, Postural tremor, ... ORPHA:98762
Heterotaxy, Visceral, 8, Autosomal
Pulmonary artery atresia, Congenitally corrected transposition of the great arteries with ventric... OMIM:617205
Lissencephaly Due To Tuba1A Mutation
Spasticity, Polymicrogyria, Partial agenesis of the corpus callosum, Agenesis of corpus callosum,... ORPHA:171680
Spinocerebellar Ataxia Type 40
Unsteady gait, Pontocerebellar atrophy, Dysdiadochokinesis, Gait ataxia, Intention tremor, Spasti... ORPHA:423275
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Cardiomyopathy, Dilated, 1O
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... OMIM:608569
Spinocerebellar Ataxia, X-Linked 1
Unsteady gait, Ataxia, Abnormality of extrapyramidal motor function, Intention tremor, Action tre... OMIM:302500
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement, Bi... ORPHA:555877
Spastic Paraplegia 85, Autosomal Recessive
Torticollis, Lower limb spasticity, Impaired proprioception, Peripheral axonal neuropathy, Impair... OMIM:619686
Lethal Congenital Contracture Syndrome 10
Macroglossia, High palate, Torticollis, Ventricular septal defect, Hydrops fetalis, Broad ribs, O... OMIM:617022
Heterotaxy, Visceral, 4, Autosomal
Pulmonary artery atresia, Dextrocardia, Right aortic arch, Ventricular septal defect, Total anoma... OMIM:613751
Infantile Sialic Acid Storage Disease
High palate, Hydrops fetalis, Hepatomegaly, Metaphyseal irregularity, Congestive heart failure, G... OMIM:269920
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect, Micrognathia, Short philtrum, Widely-spaced maxi... OMIM:608227
Lissencephaly 6 With Microcephaly
Spasticity, Polymicrogyria, Partial agenesis of the corpus callosum, Limb hypertonia, Microlissen... OMIM:616212
Emanuel Syndrome
Anal atresia, Inguinal hernia, Torticollis, High palate, Pulmonic stenosis, Atrial septal defect,... OMIM:609029
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal sensory impairment, Ataxia, Steppage gait, Peripheral axonal neuropathy, Tremor, Gait atax... OMIM:618387
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Gne Myopathy
Lower limb amyotrophy, Shoulder girdle muscle weakness, Hip flexor weakness, Lower limb muscle we... ORPHA:602
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Agenesis of corpus callosum, Pachygyria, Ventriculomegaly ORPHA:2512
Mosaic Trisomy 1
Camptodactyly of finger, Short upper lip, Ventricular septal defect, Rocker bottom foot, Cleft pa... ORPHA:1692
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
Arterial Tortuosity Syndrome
Inguinal hernia, Bifid uvula, Ventricular hypertrophy, Aortic root aneurysm, Generalized arterial... OMIM:208050
Epilepsy, Progressive Myoclonic, 9
Simplified gyral pattern, Agenesis of corpus callosum, Ventriculomegaly OMIM:616540
Spinocerebellar Ataxia, Autosomal Recessive 10
Limb ataxia, Gait ataxia, Intention tremor, Fasciculations, Babinski sign, Cerebellar atrophy, Tr... OMIM:613728
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Simplified gyral pattern, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Flexi... OMIM:618815
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Partial agenesis of the corpus callosum, Hypoplasia of the pons, Simplified gyral pattern, Optic ... OMIM:616171
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Fetal Minoxidil Syndrome
Umbilical hernia, Micrognathia, Ventricular septal defect ORPHA:1918
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Hypoplastic left heart, Doubl... OMIM:618845
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Cardiomyopathy, Oligohydramnios ORPHA:1909
Short-Rib Thoracic Dysplasia 12
Inguinal hernia, Median cleft lip and palate, Ventricular septal defect, Hepatomegaly, Short toe,... OMIM:269860
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Oculomotor apraxia, Cerebellar dysplasia, Ataxia, Cerebell... ORPHA:370022
Polymicrogyria, Bilateral Frontoparietal
Frontal polymicrogyria, Broad-based gait, Ankle clonus, Hypoplasia of the pons, Ventriculomegaly,... OMIM:606854
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Proximal amyotrophy, Spinal muscular atrophy, Atrial sep... OMIM:253300
Mogs-Cdg
Hepatosplenomegaly, High palate, Edema, Left ventricular hypertrophy, Atrial septal defect, Polyh... ORPHA:79330
Endocardial Fibroelastosis
Abnormal palate morphology, Restrictive cardiomyopathy, Congestive heart failure, Sandal gap, End... ORPHA:2022
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Spasticity, Spastic tetraplegia, Ataxia, Peripheral axonal neuropathy, Optic atrophy, Cerebellar ... OMIM:617207
Kleeblattschaedel
Hydrocephalus OMIM:148800
Idiopathic Congenital Hypothyroidism
Macroglossia, Umbilical hernia, Facial edema, Prolonged neonatal jaundice, Abnormal epiphysis mor... ORPHA:95717
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Developmental And Epileptic Encephalopathy 97
Ventriculomegaly OMIM:619561
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... OMIM:601494
Craniofaciofrontodigital Syndrome
Stroke, Atrial septal defect, Ventricular septal defect, Persistent fetal circulation, Pulmonary ... ORPHA:363705
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Unsteady gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Cerebellar atrophy,... OMIM:615386
Cardiomyopathy, Dilated, 1Oo
Reduced left ventricular ejection fraction, Atrial septal defect, Second degree atrioventricular ... OMIM:620247
Aortic Valve Disease 1
Ventricular septal defect, Mitral atresia, Tetralogy of Fallot, Bicuspid aortic valve, Double out... OMIM:109730
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Stroke, Ventricular septal defect, Atrial septal defect, Congestive heart failure... ORPHA:49827
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Abnormal intestine morphology, Clubbing, Edema, Malabsorption, Pulmonary embolism, Intestinal obs... OMIM:226300
Laubry-Pezzi Syndrome
Dilatation of the sinus of Valsalva, Right ventricular outlet tract obstruction, Abnormal coronar... ORPHA:99094
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly ORPHA:3207
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Distal sensory impairment, Ataxia, Steppage gait, Decreased motor nerve conduction velocity, Decr... OMIM:607250
Intellectual Developmental Disorder, Autosomal Dominant 48
Polymicrogyria, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Lateral ventricle dila... OMIM:617751
Isolated Dandy-Walker Malformation
Encephalocele, Cleft palate, Tetralogy of Fallot ORPHA:217
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Myopathy, Pigmentary retinopathy, Hepatomegaly, Congestive heart ... OMIM:618234
Chronic Atrial And Intestinal Dysrhythmia
Mitral regurgitation, Left atrial enlargement, Pulmonic stenosis, Sick sinus syndrome, Bicuspid a... OMIM:616201
Craniofrontonasal Dysplasia
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Camptodactyly of finger, Abno... ORPHA:1520
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Gait disturbance, Falls, Action myoclonus, Myoclonus, Cerebellar atrophy, Choreoathe... OMIM:616230
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Thoracic hypoplasia, Coat hanger sign of ribs, Ventricular septal defect, Umbili... ORPHA:254534
Emanuel Syndrome
Inguinal hernia, Tooth malposition, Bifid uvula, Atrial septal defect, Ventricular septal defect,... ORPHA:96170
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial effusion, E... OMIM:619313
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Hypertension, Congestive heart failure, Macular dystrophy, Hypertrophic cardiomyopath... ORPHA:225
Craniorachischisis
Spinal dysraphism, Anal atresia, Bifid sternum, Cervical spina bifida, Sirenomelia, Myelomeningoc... ORPHA:63260
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele OMIM:258320
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormality of extrapyramidal motor function, Ventriculomegaly, Tremor, Gait ataxia, Myoc... OMIM:615362
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Camptodactyly of finger, Myopathy, Hydrocephalus, Muscular dystrophy, Hypo... ORPHA:272
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Pulmonic valve myxoma, Cholestasis, Tricuspid regurgitation, Di... ORPHA:615
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Hydranencephaly, Ventricular septal defect, Cleft palate, Truncus... OMIM:601355
Spinocerebellar Ataxia, Autosomal Recessive 17
Frequent falls, Limb ataxia, Oculomotor apraxia, Unsteady gait, Ataxia, Broad-based gait, Clumsin... OMIM:616127
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejection fract... OMIM:615184
Spastic Paraplegia 78, Autosomal Recessive
Abnormal pyramidal sign, Distal sensory impairment, Spastic tetraplegia, Parkinsonism, Ataxia, Fa... OMIM:617225
Classic Multiminicore Myopathy
High palate, Absent muscle fiber merosin, Hip dysplasia, Weakness of facial musculature, Muscle f... ORPHA:324604
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Mitral regurgitation, Hydrocephalus, Ventricular septal defect ORPHA:83473
Cardiomyopathy, Dilated, 1G
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... OMIM:604145
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Cleft lip, Cleft palate, Tented upper lip vermil... OMIM:616898
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
8P23.1 Microdeletion Syndrome
High palate, Enlarged thorax, Hypoplastic left heart, Tetralogy of Fallot, Proximal placement of ... ORPHA:251071
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Ventricular tachycardia, Tooth agenesis, Edema, Clubbing of fingers, C... OMIM:605676
Joubert Syndrome 24
Spasticity, Polymicrogyria, Gait disturbance, Ataxia, Pachygyria, Cerebellar hypoplasia, Dysmetria OMIM:616654
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Everted lower li... OMIM:249670
Attrv122I Amyloidosis
Abnormal EKG, Stroke, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, A... ORPHA:85451
Cardiomyopathy, Dilated, 1E
Stroke, Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachy... OMIM:601154
Spinocerebellar Ataxia 1
Limb ataxia, Progressive cerebellar ataxia, Spinocerebellar atrophy, Dysdiadochokinesis, Fascicul... OMIM:164400
Sialidosis Type 2
Inguinal hernia, Hydrops fetalis, Umbilical hernia, Skeletal muscle atrophy, Hepatomegaly, Pectus... ORPHA:87876
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Subdural hemorrhage, Lateral ventricle dilatation, Ventriculomegaly, Extra-axial cerebrospinal fl... OMIM:618291
Cantu Syndrome
Metaphyseal widening, Umbilical hernia, Coxa valga, Narrow chest, Erlenmeyer flask deformity of t... OMIM:239850
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Dentatorubral-Pallidoluysian Atrophy
Parkinsonism, Ataxia, Chorea, Atrophy of the dentate nucleus, Myoclonus, Choreoathetosis OMIM:125370
Spinocerebellar Ataxia 2
Spasticity, Parkinsonism, Limb ataxia, Oculomotor apraxia, Progressive cerebellar ataxia, Ataxia,... OMIM:183090
Scimitar Syndrome
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Lef... ORPHA:185
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Abnormal mitochondria in muscle tissue, Proximal muscle weak... ORPHA:59135
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the ventral pons, Cerebellar hypoplasia, Lateral ventricle dilatation, Hypoplasia o... OMIM:607596
Combined Oxidative Phosphorylation Deficiency 17
Death in childhood, Congestive heart failure, Death in infancy, Hypertrophic cardiomyopathy OMIM:615440
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Inguinal hernia, Short thorax, Meningocele, Umbilical hernia, Finger syn... ORPHA:2311
Pseudo-Torch Syndrome 2
Polymicrogyria, Cerebral hemorrhage, Lateral ventricle dilatation, Ventriculomegaly, Gray matter ... OMIM:617397
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Hypoplastic left heart, Right aortic arch, Ventricular septal defect, Atr... OMIM:619702
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Stroke, Concentric hypertrophic cardiomyopathy, Left atrial enlarg... OMIM:619402
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormality of the humerus, Hydrops fetalis... ORPHA:1263
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:303350
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Ventricular septal defect, Patent ductus arteriosus, Hypertrophic cardiom... OMIM:616276
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly ORPHA:500166
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Pericardial effusion, Edema, Ascites OMIM:608776
Structural Heart Defects And Renal Anomalies Syndrome