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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
edema Myh10em1(IMPC)J HOM E15.5 0.00
preweaning lethality, complete penetrance Myh10em1(IMPC)J HOM   Early adult 0.00
embryonic growth retardation Myh10em1(IMPC)J HOM E12.5 0.00
abnormal placenta size Myh10em1(IMPC)J HOM E15.5 0.00
abnormal pericardium morphology Myh10em1(IMPC)J HOM E12.5 0.00
hemorrhage 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
prenatal lethality prior to heart atrial septation Myh10em1(IMPC)J HOM   E15.5 0.00
increased fasting circulating glucose level Myh10em1(IMPC)J HET Early adult 9.42×10-05

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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.

Eye Morphology

Images Ophthalmoscopy

8 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Gross Morphology Embryo E12.5

Images

12 Images

Sleep Wake

Wake state (bmp file)

1 Images

Auditory Brain Stem Response

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

8 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 With Cerebellar Agenesis
Cerebellar agenesis, Hydrocephalus OMIM:307010
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Enlarged sylvian cistern, Perisylvian polymicrogyria OMIM:615752
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:615938
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Lissencephaly 1
Gray matter heterotopia, Cerebellar hypoplasia, Agyria, Lissencephaly, Ventriculomegaly, Subcorti... OMIM:607432
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Gray matter heterotopia, Cerebellar hypoplasia, Polymi... OMIM:604213
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Ventriculomegaly, Subcortical band hetero... OMIM:600348
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Simplified gyral pattern, Ventriculomegaly, Hypoplasia of the brainstem OMIM:615763
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Cleft palate, Micrognathia, Ventricular septal de... OMIM:231060
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... OMIM:220200
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Ethanolaminosis
Cardiomegaly OMIM:227150
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Enlarged sylvian cistern, Agyria, Ventriculomegaly, Pachygyria ORPHA:1084
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Simplified gyral pattern, Abnormal cerebellum morphology, Ventriculomegaly ORPHA:329228
Lissencephaly 3
Gray matter heterotopia, Polymicrogyria, Agyria, Cerebellar vermis hypoplasia, Lissencephaly, Ven... OMIM:611603
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:615937
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Cerebellar hypoplasia, Periventricular ribbonlike heterotopia, Lissenceph... OMIM:618677
Familial Median Cleft Of The Upper And Lower Lips
Abnormality of orbicularis oris muscle, Cleft upper lip, Diastema, Fusion of gums, Irregular dent... ORPHA:401942
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Microlissencephaly
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Ventriculomegaly, Cerebellar atrophy,... ORPHA:1083
Porencephaly
Ventriculomegaly ORPHA:2940
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Agenesis of corpus callosum, Ventriculomegaly, Polymicrogyria ORPHA:171703
Microcephaly 19, Primary, Autosomal Recessive
Simplified gyral pattern, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly OMIM:617800
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Periventricular nodular heterotopia, Cerebellar hypoplasia, Optic atrophy, Spa... OMIM:618572
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly, Polymicrogyria OMIM:612691
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613122
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Polymicrogyria, Lissencephaly, Ventriculomegaly, Cerebellar atrophy, Pachygyria, Hypoplasia of th... OMIM:618730
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly OMIM:612900
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Spinocerebellar Ataxia 38
Ataxia, Limb ataxia, Peripheral axonal neuropathy, Gait ataxia, Cerebellar atrophy OMIM:615957
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Ataxia, Inability to walk, Cerebellar hypoplasia, Spastic tetraplegia, Pachygyria OMIM:618174
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy OMIM:605388
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bundle bran... OMIM:115197
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus, Ventriculomegaly OMIM:618709
Lissencephaly 4
Cerebellar hypoplasia, Lissencephaly, Simplified gyral pattern, Colpocephaly, Agenesis of corpus ... OMIM:614019
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Autosomal Recessive Spastic Paraplegia Type 32
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Babinski sign, Progres... ORPHA:171622
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... ORPHA:99095
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Hypoplasia of the pons, Polymicrogyria, Abno... ORPHA:300573
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cerebellar vermis morphology, Cerebellar hypoplasia ORPHA:2703
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... OMIM:619424
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617769
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Micrognathia, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Combined Oxidative Phosphorylation Deficiency 39
Abnormal cerebellum morphology, Increased CSF lactate, Ventriculomegaly, Simplified gyral pattern... OMIM:618397
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Gray matter heterotopia, Dysgyria, Cerebellar hypoplasia, Type II lissencephaly, O... ORPHA:352682
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy ORPHA:98766
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dys... ORPHA:101010
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Dilated cardiomyopathy, Vascular dilat... OMIM:600884
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait, Cerebellar atrophy OMIM:616410
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:1538
Pierre Robin Syndrome
Cleft palate, Glossoptosis, Micrognathia, Cor pulmonale, Pierre-Robin sequence OMIM:261800
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Babinski sign, Frequent falls, Impaired distal vibration sensation, Spasticity, Cerebella... OMIM:619742
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the radius, Ventricular ... ORPHA:2476
Cerebellar Ataxia And Albinism
Ataxia, Head tremor, Olivopontocerebellar atrophy OMIM:258300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly OMIM:614830
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Jaundice, Left ventricular hypertroph... ORPHA:57777
Gonadal dysgenesis, xy type, with associated anomalies
Cleft upper lip, Oral cleft, Acromelia, Abnormal heart morphology OMIM:233430
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... OMIM:617018
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... OMIM:604286
Mmep Syndrome
Ventricular septal defect, Mandibular prognathia, Median cleft lip, Oral cleft ORPHA:3434
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Nephrosialidosis
Ascites, Pericardial effusion, Bone-marrow foam cells OMIM:256150
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy ORPHA:217012
Catel-Manzke Syndrome
High palate, Cleft upper lip, Cleft palate, Glossoptosis, Micrognathia, Coarctation of aorta, Cam... OMIM:616145
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617133
Olivopontocerebellar Atrophy-Deafness Syndrome
Hypertonia, Ataxia, Olivopontocerebellar atrophy, Optic atrophy, Ventriculomegaly ORPHA:2732
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Cerebellar atrophy OMIM:615268
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Cerebellar atrophy ORPHA:423296
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Increased CSF lactate, Cerebellar vermis atrophy, Babinski sign, Dilated fou... OMIM:619054
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Spinocerebellar Ataxia 37
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy OMIM:615945
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, ... OMIM:611615
Spinocerebellar Ataxia 31
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:117210
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Malar flattening, Tetralogy of Fallot, Unilateral cleft lip, Ma... ORPHA:1919
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Ventriculomegaly, Cerebellar atrophy OMIM:613402
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Hypoplasia of the pons, Type II lissencephaly, Ventriculomegaly, Dandy-Walker malf... OMIM:613154
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... OMIM:181350
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Ventriculomegaly OMIM:617051
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Ventriculomegaly ORPHA:1980
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar ... ORPHA:94122
Cardiac Lipidosis, Familial
Cardiomyopathy, Death in infancy, Congestive heart failure OMIM:212080
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Sudden cardiac death, Ventriculomegaly OMIM:115210
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Pachygyria OMIM:614173
Intellectual Developmental Disorder, Autosomal Recessive 69
Cerebellar hypoplasia, Ventriculomegaly OMIM:618383
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Hepato... ORPHA:75249
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:614322
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Spastic Paraplegia 32, Autosomal Recessive
Ankle clonus, Babinski sign, Spastic paraplegia, Difficulty walking, Cerebellar atrophy, Spastic ... OMIM:611252
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Micrognathia... ORPHA:3304
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... OMIM:613255
Spinocerebellar Ataxia 46
Dysmetria, Limb ataxia, Positive Romberg sign, Sensory axonal neuropathy, Gait ataxia, Cerebellar... OMIM:617770
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Cerebellar hypoplasia, Polymicrogyria OMIM:615771
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... OMIM:160500
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Agenesis of corpus callosum, Ventriculomegaly OMIM:619501
Diprosopus
Abnormal cardiac septum morphology, Anencephaly, Cleft palate, Non-midline cleft lip ORPHA:1681
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... OMIM:614831
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion, Generalized ... ORPHA:1041
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... ORPHA:284332
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Cerebellar ... OMIM:618876
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, D... OMIM:619903
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Gray matter heterotopia, Tip-toe gait, Pachygyria, Frequent falls, Difficulty wa... ORPHA:370980
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum, Hypoplasia... ORPHA:250972
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Ataxia, Cerebellar atrophy OMIM:614706
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum ORPHA:1568
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Microcephaly 17, Primary, Autosomal Recessive
Cerebellar hypoplasia, Ventriculomegaly, Simplified gyral pattern, Microlissencephaly, Agenesis o... OMIM:617090
Lymphatic Malformation 7
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Pachygyria, Left ventricular hypertrophy, Hypoplasia of the pons, Cerebellar hypop... OMIM:613153
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Holzgreve Syndrome
Cleft upper lip, Hypoplastic left heart, Cleft palate OMIM:236110
Diamond-Blackfan Anemia 6
Cleft upper lip, Atrial septal defect, Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Tet... OMIM:612561
Developmental And Epileptic Encephalopathy 54
Ventriculomegaly OMIM:617391
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Lissencephaly 5
Hydrocephalus, Gray matter heterotopia, Optic atrophy, Type II lissencephaly, Cerebellar vermis h... OMIM:615191
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Moyamoya Disease
Telangiectasia, Ventriculomegaly ORPHA:2573
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... ORPHA:1677
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Spinocerebellar Ataxia 23
Dysmetria, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Tremor, G... OMIM:610245
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partial agenesis of ... OMIM:304100
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropathy, Tremor, Cerebellar atrop... OMIM:607458
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dila... ORPHA:263494
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Gait ataxia, Ventriculomegaly, Cerebellar atrophy, Slurred speech OMIM:619323
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Retinopathy, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, Myopath... OMIM:618234
Tetraamelia Syndrome 2
Microretrognathia, Glossoptosis, Micrognathia, Ventricular septal defect, Hypoplastic pulmonary v... OMIM:618021
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Hypertonia, Ataxia, Ventriculomegaly, Cerebellar atrophy, Upper limb spasticity, Lower limb spast... OMIM:613925
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Dysmetria, Babinski sign, Truncal ataxia, Cerebellar hypoplasia OMIM:617584
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar hypoplasia, Hemiparesis, Unilateral polymicrogyria, Lissencephaly, Pachygyria, Agenesi... OMIM:610031
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Cerebellar atrophy,... OMIM:616948
Alexander Disease
Hydrocephalus, Ataxia, Dysmetria, Babinski sign, Abnormal dentate nucleus morphology, Increased C... OMIM:203450
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Peripheral axonal neuropathy, Spastic paraplegia,... OMIM:610357
Congenital Hydrocephalus
Hydrocephalus, Abnormal cortical gyration, Lissencephaly, Ventriculomegaly, Colpocephaly ORPHA:2185
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
Spastic Ataxia-Corneal Dystrophy Syndrome
Ataxia, Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Gait disturb... ORPHA:2572
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Finger flexor weakness, Proximal muscle weakness in lower limbs, W... ORPHA:63273
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy OMIM:616291
Microcephaly 5, Primary, Autosomal Recessive
Cerebellar hypoplasia, Simplified gyral pattern, Agenesis of corpus callosum, Ventriculomegaly OMIM:608716
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Narrow mouth, Arteriovenous malformation, Hypoplasia of the zygomatic bone, Downturned corners of... ORPHA:1110
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Type II lissencephaly, Ventriculomegaly, Cerebellar malformation, Occipital enceph... ORPHA:324416
Brain Small Vessel Disease 2
Subcortical heterotopia, Intracranial hemorrhage, Ventriculomegaly, Polymicrogyria OMIM:614483
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... OMIM:608099
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Long philtrum, Foot d... ORPHA:477817
Autosomal Recessive Amelia
Abnormal cardiac septum morphology, Micrognathia, Acromelia of the lower limbs, Amelia, Oral clef... ORPHA:1027
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... OMIM:612937
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... ORPHA:99104
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... OMIM:601419
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Patent ductus art... OMIM:618782
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Truncal ataxia, Cerebellar atrophy OMIM:611726
Pericardial Effusion, Chronic
Retinal arteriolar tortuosity, Pericardial effusion, Constrictive pericarditis OMIM:260900
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Tremor, Ventriculomegaly, Cerebellar atrophy OMIM:617862
Multiple Mitochondrial Dysfunctions Syndrome 5
Pachygyria, Ventriculomegaly OMIM:617613
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Abnormal pons morphology, Cerebellar vermis atrophy, Atrophy/Degene... ORPHA:77299
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia, Cerebellar atrophy OMIM:616187
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Dystonia With Cerebellar Atrophy
Torticollis, Progressive cerebellar ataxia, Cerebellar atrophy OMIM:611694
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Thin... OMIM:601927
Adams-Oliver Syndrome 5
Right atrial enlargement, Splenomegaly, Pulmonic stenosis, Right ventricular hypertrophy, Patent ... OMIM:616028
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Acalvaria
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal m... ORPHA:945
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Gingival overgrowth, Atrial septal defect, Joint contracture of th... OMIM:179613
Lethal Congenital Contracture Syndrome 10
Torticollis, High palate, Narrow palate, Micrognathia, Long philtrum, Ventricular septal defect, ... OMIM:617022
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... OMIM:615768
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... ORPHA:300751
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... OMIM:613728
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Neurodegeneration With Brain Iron Accumulation
Rigidity, Chorea, Optic atrophy, Spasticity, Cerebellar atrophy, Abnormality of extrapyramidal mo... ORPHA:385
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Stroke, Systolic heart murmur, Tra... ORPHA:99103
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal cerebellum morphology, Ataxia, Cerebellar vermis hypoplasia, Impaired pai... ORPHA:1532
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Optic atrophy, Gait disturbance, Tremor, Progressive spasticity... OMIM:210000
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Ataxia, Gait ataxia, Cerebellar atrophy OMIM:615705
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Dilated cardiomyo... OMIM:300580
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy ORPHA:2515
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Masa Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:2466
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Cerebellar hyp... OMIM:224050
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... ORPHA:206559
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Cardiomyopathy, Achilles tendon contracture, Muscle fib... OMIM:609200
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Holoprosencephaly, Micrognathia, Anencephaly, Micromelia, Tetralogy ... ORPHA:1908
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Hypopl... OMIM:220210
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test, Ventriculomegaly ORPHA:1261
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Perisylvian polymicrogyria, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dyspl... OMIM:616531
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Short femur, Holoprosencephaly, Amelia, Anterior encephalocele, Ventricular sept... OMIM:601357
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Abnormal cerebellum morphology, Ataxia, Myoclonus, Babinski sign, Tremor, Cerebellar atrophy, Abn... OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:608029
Glycogen Storage Disease 0, Muscle
Stroke, Left ventricular hypertrophy, Decreased muscle glycogen content, Left atrial enlargement,... OMIM:611556
Spinocerebellar Ataxia, Autosomal Recessive 29
Ataxia, Cerebellar vermis atrophy, Inability to walk, Peripheral axonal neuropathy, Optic disc pa... OMIM:619389
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Peripheral axonal neuropathy, Distal sensory impairment, Tremor, Gait ataxia, ... OMIM:618387
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Dilated cardiomyopa... OMIM:616827
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Cerebellar hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem OMIM:616486
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, M... OMIM:618052
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Spasti... OMIM:619302
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Tremor, Gait ataxia, Spas... ORPHA:1170
Atypical Teratoid Rhabdoid Tumor
Cerebral palsy, Hydrocephalus, Hemiplegia/hemiparesis, Ataxia ORPHA:99966
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Tricuspid regurgitation, Pulmonic stenosis, Hydrops fetalis, Pulmonary arterial... ORPHA:2414
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar dyspl... OMIM:615960
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Gray matter heterotopia, Hemiparesis, Polymicrogyria, Lissencephaly, Spastic tetrapar... OMIM:604317
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Peripheral axonal neuropathy, Optic atrophy, Progressive spastic paraparesis, Cerebellar atrophy,... ORPHA:496756
Myopathy, Myosin Storage, Autosomal Recessive
Fourth heart sound, Congestive heart failure, Right axis deviation, Sinus tachycardia, EMG: myopa... OMIM:255160
Joubert Syndrome 30
Superior cerebellar dysplasia, Gray matter heterotopia, Ventriculomegaly, Cerebellar atrophy, Mol... OMIM:617622
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy OMIM:302500
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Thomas Syndrome
Cleft upper lip, Hypoplastic left heart, Cleft palate ORPHA:3316
Spinocerebellar Ataxia, Autosomal Recessive 8
Ataxia, Dysmetria, Limb ataxia, Peripheral axonal neuropathy, Gait ataxia, Spasticity, Cerebellar... OMIM:610743
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait OMIM:617917
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Arrhythmia, Dilated cardiomyopathy, Facial palsy, C... OMIM:611705
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Short ribs, Micrognathia, Micromelia, Median cleft lip, Microglossia... OMIM:241800
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture OMIM:122850
Sonoda Syndrome
Ventricular septal defect, Narrow mouth OMIM:270460
Ceroid Lipofuscinosis, Neuronal, 8
Myoclonus, Ataxia, Cerebellar atrophy OMIM:600143
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:171442
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Craniotelencephalic Dysplasia
Hydrocephalus, Cerebellar hypoplasia, Arrhinencephaly, Agenesis of corpus callosum, Optic atrophy... ORPHA:1528
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar hypoplasia, Polymicrogy... OMIM:615181
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Fried Syndrome
Gait disturbance, Spastic diplegia, Hydrocephalus, Abnormal cerebellum morphology ORPHA:85335
Ataxia-Telangiectasia-Like Disorder
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Myoclonus, Dilated fourth ventricle, Cho... ORPHA:251347
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Everted lower lip vermilion, Micrognathia, Long philtrum, Ventricular ... ORPHA:261120
Lissencephaly, X-Linked, 1
Ataxia, Gray matter heterotopia, Agyria, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpu... OMIM:300067
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... ORPHA:3400
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly ORPHA:500166
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo... ORPHA:2041
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... OMIM:616204
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum ORPHA:3207
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Facial palsy, Myopathy OMIM:602541
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis OMIM:300864
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Dilated cardiomyopathy, Simplified gyral pattern, Hypertrophic cardiomyopath... OMIM:618815
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... OMIM:270500
Gordon Holmes Syndrome
Ataxia, Cerebellar atrophy OMIM:212840
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum, Ventriculomegaly ORPHA:2512
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Spinocerebellar Ataxia Type 12
Abnormal cerebellum morphology, Ataxia, Action tremor, Poor fine motor coordination, Bradykinesia... ORPHA:98762
Developmental And Epileptic Encephalopathy 97
Ventriculomegaly OMIM:619561
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... ORPHA:423275
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Spinocerebellar Ataxia 49
Ataxia, Loss of ambulation, Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropat... OMIM:619806
Kleeblattschaedel
Hydrocephalus OMIM:148800
Spastic Paraplegia 85, Autosomal Recessive
Torticollis, Impaired vibratory sensation, Babinski sign, Peripheral axonal neuropathy, Optic atr... OMIM:619686
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Micrognathia, Short philtrum, Ventricular septal defect, Widely-spaced maxi... OMIM:608227
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria, Limb ataxia, Int... ORPHA:1175
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricul... OMIM:253300
Fetal Minoxidil Syndrome
Ventricular septal defect, Micrognathia, Umbilical hernia ORPHA:1918
Cardiomyopathy, Familial Hypertrophic, 28
Stroke, Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Left ventricu... OMIM:619402
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Spinocerebellar Ataxia 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... OMIM:616053
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomyopathy ORPHA:1909
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Ataxia, Dilated fourth ventricle, Inferior cerebellar ver... ORPHA:370022
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... OMIM:300257
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... ORPHA:99094
Polymicrogyria, Bilateral Frontoparietal
Perisylvian polymicrogyria, Broad-based gait, Hypertonia, Dysmetria, Ankle clonus, Babinski sign,... OMIM:606854
Craniofaciofrontodigital Syndrome
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Abnormal cerebr... ORPHA:363705
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Peripheral axonal neuropathy, Optic atrophy, Spasticity, Cerebellar atrophy, Spastic tetr... OMIM:617207
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Spinocerebellar Ataxia 1
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Chorea, Optic atrophy,... OMIM:164400
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Paroxysmal atrial tachycardia, Retinal dystrophy, Ventricular septa... ORPHA:49827
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... OMIM:619048
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, ... ORPHA:272
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Abnormal cerebellum morphology, Leg muscle stiffness, Distal lower l... ORPHA:320360
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Limb hypertonia, Polymicrogyria, Partial agenesis of the corpus call... OMIM:616212
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Cleft palate, Ventricular septal defect, Hydranencephaly, Truncus... OMIM:601355
Joubert Syndrome 24
Ataxia, Dysmetria, Cerebellar hypoplasia, Polymicrogyria, Gait disturbance, Spasticity, Pachygyria OMIM:616654
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypoplastic spl... OMIM:619313
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... OMIM:611302
Maternally-Inherited Diabetes And Deafness
Retinopathy, Arrhythmia, Abnormal chorioretinal morphology, Macular dystrophy, Hypertrophic cardi... ORPHA:225
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Action tremor, Intention tremor, Nonprogressive cerebellar ataxia, Cerebellar hypopla... ORPHA:314978
Isolated Dandy-Walker Malformation
Encephalocele, Cleft palate, Tetralogy of Fallot ORPHA:217
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Heart mur... ORPHA:615
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Gait disturbance, Choreoathetosi... OMIM:616230
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular se... OMIM:249670
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Ataxia, Clumsiness, Limb ataxia, Dysmetria, Intention tremor, Cerebellar hypopl... OMIM:616127
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... OMIM:614065
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Abnormal autonomic n... ORPHA:85451
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Babinski sign, Abnormal pyram... OMIM:617225
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Peho-Like Syndrome
Polymicrogyria, Lissencephaly, Ventriculomegaly, Cerebellar atrophy, Pachygyria OMIM:617507
Neurodegeneration With Brain Iron Accumulation 7
Loss of ambulation, Ataxia, Dysmetria, Spasticity, Cerebellar atrophy OMIM:617916
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Impai... OMIM:183090
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Cleft palate, Everted lower lip vermilion, Short philtrum, Ventricular sept... OMIM:616898
Bowen-Conradi Syndrome
Ventriculomegaly ORPHA:1270
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:619702
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Gait ataxia, Inability to walk, Cerebellar atrophy OMIM:617915
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly OMIM:616540
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Myopathy, Centronuclear, 5
Hip contracture, Facial palsy, Dilated cardiomyopathy OMIM:615959
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Atrophy of the dentate nucleus OMIM:125370
Miller-Dieker syndrome (MDS)
Lissencephaly, Abnormal heart morphology DECIPHER:21
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus, Mitral regurgitation ORPHA:83473
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology, Tooth agenesis, Micrognathia, Mesomelia, Abnormal palate morpho... ORPHA:1277
Spinocerebellar Ataxia Type 26
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Progressive gait ataxi... ORPHA:101112
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Ataxia-Oculomotor Apraxia 3
Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Cerebellar atrophy, Oculomotor apraxia OMIM:615217
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Aortic valve stenosis, Dilated fourth ventricle, Partial absence of cerebellar ver... OMIM:220220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Cerebellar hypoplasia, Cerebellar cyst, Hypoplasia of the pons, Ventriculomegaly OMIM:613151
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Ascites, Pericardial effusion, Edema OMIM:608776
Pontocerebellar Hypoplasia, Type 1E
Myoclonus, Hypoplasia of the pons, Cerebellar hypoplasia, Optic atrophy, Cerebellar atrophy OMIM:619303
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal CSF pyruvate family amino acid concentration, Increased CSF lactate, Cerebellar gliosis,... ORPHA:79243
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... OMIM:609270
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Impaired vibratory sensat... ORPHA:284324
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart ... OMIM:602390
Frontonasal Dysplasia 1
Median cleft palate, Joint contracture of the hand, Tetralogy of Fallot, Camptodactyly, Hypoplast... OMIM:136760
Catel-Manzke Syndrome
Atrial septal defect, Malar flattening, Cleft palate, Glossoptosis, Micrognathia, Camptodactyly o... ORPHA:1388
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Cerebellar atrophy, Unsteady gait ORPHA:284271
Lissencephaly 8
Hypoplasia of the brainstem, Cerebellar hypoplasia, Polymicrogyria, Type II lissencephaly, Agyria... OMIM:617255
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ataxia, Periventricular heterotopia, Rigidity, Cerebellar hypoplasia, Optic atroph... OMIM:618476
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Cardiomegaly, Congestive heart failure OMIM:300886
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Ventriculomegaly, Simplified... OMIM:615219
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... OMIM:615297
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Simplified gyral pattern, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Microgn... OMIM:608572
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Peripheral axonal neuropathy, Distal sensory impairment, Cerebellar atrophy, Steppage gait OMIM:607250
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Gray matter heterotopia, Anencephaly, Cerebellar hypoplasia, Optic nerve dysplasia... OMIM:615287
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor, Cerebellar atrophy OMIM:618090
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Broad-based gait, Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Dysmetria, Oculomoto... ORPHA:363429
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Intention tremor, Freq... ORPHA:512260
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Joubert Syndrome 31
Molar tooth sign on MRI, Ventriculomegaly OMIM:617761
Developmental And Epileptic Encephalopathy 59
Ventriculomegaly OMIM:617904
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Tetralogy of Fallot, ... OMIM:601322
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Hydrocephalus, Optic atrophy, Tremor, Spastic tetraparesis, S... OMIM:619470
Leber Congenital Amaurosis
Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellar vermis, Abnormal optic disc morpholo... ORPHA:65
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Myoclonus, Optic atrophy, Ventriculomegaly, Spasticity, Dandy-Walker malformation OMIM:617281
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Abnormal cerebellum morphology, Gray matter heterotopia, Optic nerve hypoplasia, A... ORPHA:370959
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Intention tremor, Tremor by anatomical site, Abnormal pyr... ORPHA:101110
Mitochondrial Complex I Deficiency, Nuclear Type 12
Choreoathetosis, Abnormality of extrapyramidal motor function, Cerebellar atrophy OMIM:301020
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Wolff-Parkinson-White syndrome, Increased CSF lactate, Ventricular sep... OMIM:614947
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Lissencephaly, Simplified gyral pattern ORPHA:284417
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Abnormal cerebellum morphology, Abnormal pyramidal sign, Hypoplasia of the pons, ... ORPHA:101070
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus callosum, Polymicr... ORPHA:101029
Spastic Paraplegia, Ataxia, And Mental Retardation
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... OMIM:607565
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Congenital diaphragmatic hernia, Cleft palate, Abnormality of lower lip, Microgna... ORPHA:1166
Myopathy, Distal, 7, Adult-Onset, X-Linked
Myofiber disarray, Proximal muscle weakness in lower limbs, Scapular winging, Increased variabili... OMIM:301075
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Neonatal death, Cholestasis, Camptodactyly, Patent ductus... OMIM:608104
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Inability to walk by childhood/adolescence, Poor fine motor coordination, Hand tre... ORPHA:99947
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Persistent... OMIM:614954
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Cardiomyo... OMIM:613313
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Ataxia, Peripheral axonal neuropathy, Optic atrophy, Difficulty walking, Cerebellar atrophy OMIM:619425
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy OMIM:609500
Null Syndrome
Abnormal cerebellum morphology, Ataxia, Inability to walk, Decreased nerve conduction velocity, P... ORPHA:280234
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Hydranencephaly, Agenesis of corpus callo... OMIM:225790
Congenital Enterovirus Infection
Abnormal bleeding, Hydrops fetalis, Myocarditis, Hypotension, Polyhydramnios, Cardiomyopathy, Ven... ORPHA:292
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Parkinsonism, Head t... OMIM:604326
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874