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
abnormal placenta size Myh10em1(IMPC)J HOM E15.5 0.00
edema Myh10em1(IMPC)J HOM E15.5 0.00
hemorrhage Myh10em1(IMPC)J HOM E15.5 0.00
abnormal pericardium morphology Myh10em1(IMPC)J HOM E12.5 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
increased fasting circulating glucose level Myh10em1(IMPC)J HET Early adult 9.75×10-05
abnormal skin coloration Myh10em1(IMPC)J HOM E15.5 0.00
preweaning lethality, complete penetrance Myh10em1(IMPC)J HOM   Early adult 0.00
hemorrhage Myh10em1(IMPC)J HOM E12.5 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Gross Morphology Embryo E12.5

Images

6 Images

Sleep Wake

Wake state (bmp file)

1 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Eye Morphology

Images Ophthalmoscopy

8 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, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian)
Enlarged sylvian cistern, Perisylvian polymicrogyria OMIM:615752
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly... OMIM:607432
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation OMIM:123155
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... OMIM:604213
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615938
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe... OMIM:220200
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Cleft upper lip, Cleft palate, Right aortic arch, Transp... OMIM:231060
Ethanolaminosis
Cardiomegaly OMIM:227150
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly ORPHA:1084
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hypoplasia, Perive... OMIM:618677
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal cerebellum morphology, Simplified gyral pattern, Ventriculomegaly ORPHA:329228
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615937
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Simplified gyral pattern, Ventriculome... OMIM:615763
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Abnormality of orbicularis oris muscle, Cleft upper lip, D... ORPHA:401942
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Lissencephaly 3
Cerebellar vermis hypoplasia, Ataxia, Periventricular laminar heterotopia, Agyria, Spastic tetrap... OMIM:611603
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Microlissencephaly
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... ORPHA:1083
Porencephaly
Ventriculomegaly ORPHA:2940
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Microcephaly 19, Primary, Autosomal Recessive
Extra-axial cerebrospinal fluid accumulation, Simplified gyral pattern, Ventriculomegaly OMIM:617800
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Spastic paraplegia, Optic atrophy, Cerebellar hypoplasia, Periventricular nodu... OMIM:618572
Polymicrogyria, Bilateral Temporooccipital
Polymicrogyria, Ventriculomegaly OMIM:612691
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly ORPHA:171703
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly OMIM:612900
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Hypoplasia of the brainstem, Lissencephaly, Pachygyria, Polymicrogyria, Ventr... OMIM:618730
Omphalocele
Omphalocele ORPHA:660
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... OMIM:619371
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Periventricular Nodular Heterotopia 8
Spasticity, Periventricular nodular heterotopia, Cerebellar vermis atrophy OMIM:618185
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly OMIM:618709
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... ORPHA:171622
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus ... OMIM:614019
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology ORPHA:2703
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte... OMIM:313850
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Death in infancy, Facial palsy, Left ventricular noncompaction cardiomyopathy, Left... OMIM:619424
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... ORPHA:101010
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance ORPHA:98766
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Hypoplasi... ORPHA:352682
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Abnormal brainstem morpho... ORPHA:300573
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Spastic Paraplegia 88, Autosomal Dominant
Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Cerebellar hypoplasia, Ventriculomegaly OMIM:620106
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... OMIM:615268
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis OMIM:261800
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... OMIM:619742
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cerebellar agenesis ORPHA:1397
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong... OMIM:614473
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... OMIM:617018
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Optic atrophy, Hypertonia, Olivopontocerebellar atrophy, Ventriculomegaly ORPHA:2732
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:1538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Type II lissencephaly OMIM:614830
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Limb Body Wall Complex
Congenital diaphragmatic hernia, Abnormality of the liver, Cutaneous finger syndactyly, Aplasia o... ORPHA:2369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ... OMIM:613154
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... ORPHA:2476
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Orofacial cleft ORPHA:3434
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... OMIM:600884
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Torticollis, Ataxia, Babinski sign, Increased CSF lactate, Choreoatheto... OMIM:619054
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Fetal Encasement Syndrome
Omphalocele, Congenital diaphragmatic hernia OMIM:613630
Nephrosialidosis
Pericardial effusion, Ascites, Bone-marrow foam cells OMIM:256150
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age... OMIM:615771
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Right atrial enlargement, Reduced left ventr... OMIM:612422
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Phenobarbital Embryopathy
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Abnormal mitral valve... ORPHA:1919
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Ataxia, Simplified gyral pattern, Ventriculomegaly OMIM:613402
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:618266
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure, Death in infancy OMIM:212080
Joubert Syndrome 13
Pachygyria, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Constricting Bands, Congenital
Omphalocele, Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Abnormal rib cage morpholo... OMIM:217100
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Ventriculomegaly ORPHA:1980
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric... ORPHA:75249
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Periventricular heterotopia, Inability to walk, Unsteady gait, Simp... OMIM:618273
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Ventriculomegaly OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Micrognathia, Patent ductus arteriosus, High palate, ... ORPHA:3304
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Optic atrophy, Ataxia OMIM:614706
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gai... OMIM:614322
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... OMIM:160500
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor... OMIM:618876
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly OMIM:619501
Holzgreve Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip OMIM:236110
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Pachygyria, Gray matter heterotopia, Facial diplegia, Tip-toe gait, Difficult... ORPHA:370980
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate ORPHA:1681
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Cerebellar atrophy, Optic atrophy, Slurred speech, Gait ataxia, Ventriculomegaly OMIM:619323
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Micrognathia, Cleft upper lip, Short thumb, P... OMIM:612561
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hyp... OMIM:613153
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H... OMIM:617967
Lissencephaly 5
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Spastic paraplegia, Subcort... OMIM:615191
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Lower limb spasticity, Ataxia, Hypertonia, Upper limb spasticity, Ventriculom... OMIM:613925
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... OMIM:619903
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hernia, Pectus excavatum,... ORPHA:2847
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... OMIM:607458
Nescav Syndrome
Cerebellar atrophy, Appendicular spasticity, Peripheral axonal neuropathy, Ataxia, Inability to w... OMIM:614255
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Abnormal thorax morphology, Cleft palate, Abnormal heart morphology, Atypical scarrin... ORPHA:294975
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly ORPHA:1568
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Polymicrogyria, Agenesis o... ORPHA:250972
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar ver... OMIM:615957
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Ataxia, Inability to walk, Hydrocephalus, Optic atrophy, Spastic tetraplegia, Hypertonia, Cerebel... OMIM:618174
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft palate, Tooth agenesis, Abnorma... ORPHA:1166
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly OMIM:619170
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Babinski sign, S... OMIM:610357
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Spastic tetraplegia, Simplified gyral pat... OMIM:619302
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Optic atrophy, Gait disturbance, Aplasia/Hypoplas... ORPHA:2572
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Abnormal jug... ORPHA:1677
Moyamoya Disease
Ventriculomegaly, Telangiectasia ORPHA:2573
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Smooth philtrum, Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular s... ORPHA:477817
Brain Small Vessel Disease 2
Intracranial hemorrhage, Subcortical heterotopia, Polymicrogyria, Ventriculomegaly OMIM:614483
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadoc... OMIM:224050
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturn... ORPHA:1110
Autosomal Recessive Amelia
Micrognathia, Non-midline cleft lip, Orofacial cleft, Abnormal cardiac septum morphology, Amelia ... ORPHA:1027
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... OMIM:619048
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Chor... OMIM:615219
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... OMIM:601357
Alexander Disease
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Abnormal dentate nucleus morphology,... OMIM:203450
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial enlargement, Pulmonic stenosis,... OMIM:616028
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar vermis atrophy, Atrophy/Degene... ORPHA:77299
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:601927
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Nemaline Myopathy 9
Ventricular septal defect, Micrognathia, Cleft palate, High palate, Arthrogryposis multiplex cong... OMIM:615731
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Dpm3-Cdg
Dilated cardiomyopathy, Stroke-like episode, Calf muscle hypertrophy, Muscular dystrophy, Pelvic ... ORPHA:263494
Spinocerebellar Ataxia, Autosomal Recessive 33
Dilated fourth ventricle, Broad-based gait, Head titubation, Simplified gyral pattern, Gait ataxi... OMIM:620208
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc... OMIM:300718
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Cerebellar malformation, Ventricul... ORPHA:324416
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Optic atrophy, Truncal ataxia OMIM:611726
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l... OMIM:615524
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Partial agenesis of the corpus callosum,... OMIM:610031
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissencephaly, Cerebe... ORPHA:1528
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Pachygyria OMIM:614870
Kagami-Ogata Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Long clavicles, Ventricular septal defect, Diastasis ... OMIM:608149
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Abnormality of the dentition, ... OMIM:179613
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Progressive cerebellar ataxia, Torticollis OMIM:611694
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign, Sensory axonal ne... OMIM:617770
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... OMIM:612937
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... OMIM:614702
Microcephaly 5, Primary, Autosomal Recessive
Simplified gyral pattern, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly OMIM:608716
Intellectual Developmental Disorder, Autosomal Recessive 69
Spasticity, Ataxia, Cerebellar hypoplasia, Ventriculomegaly OMIM:618383
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Encephalocele, Ventricular septal defect,... ORPHA:1908
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Ataxia, Impaired pain sensation, Abnormal cerebellum morphology, Hy... ORPHA:1532
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Abn... ORPHA:99104
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia OMIM:615705
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Optic disc pallor, Peripheral axonal neuropathy, Ataxi... OMIM:619389
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculomegaly ORPHA:2185
Acalvaria
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl... ORPHA:945
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Thoracic sco... OMIM:255160
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Loss of ambulation, Ataxia, Myoclonus OMIM:600143
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Omphalocele, Ventricular septal defect, Abnormal pericardium m... ORPHA:1335
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Thomas Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip ORPHA:3316
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Long philtrum, Atrial septa... OMIM:300887
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Polyhydramnios, Metaphyseal widening, Flexion contr... OMIM:263210
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... ORPHA:2414
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor OMIM:608029
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,... ORPHA:1170
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Optic atrophy, ... OMIM:605259
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Retinal dystrophy, Cardiac arrest, Anorexia, Congestive heart failure,... ORPHA:49827
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, P... ORPHA:93267
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Parachute mitral valve, Short philtrum, Atrial septal defect, Pulmonary artery a... OMIM:618316
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Atypical Teratoid Rhabdoid Tumor
Hemiplegia/hemiparesis, Hydrocephalus, Cerebral palsy, Ataxia ORPHA:99966
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Microcephaly 17, Primary, Autosomal Recessive
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,... OMIM:617090
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Pr... ORPHA:1120
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Simplified gyral pattern OMIM:617668
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum, Spasticity, Cerebe... OMIM:304100
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Short distal phalanx of the 5th finger, Cleft pala... OMIM:614608
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... OMIM:615960
Masa Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:2466
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Micrognathia, Missing ribs, Hydrocephalus, Double outlet right ventric... OMIM:220210
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Pectus exc... OMIM:271225
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ... OMIM:615297
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... ORPHA:276193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar h... OMIM:615181
Multiple Mitochondrial Dysfunctions Syndrome 5
Pachygyria, Ventriculomegaly OMIM:617613
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Joubert Syndrome 30
Cerebellar atrophy, Ventriculomegaly, Gray matter heterotopia, Molar tooth sign on MRI, Superior ... OMIM:617622
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus OMIM:616187
Fried Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Gait disturbance, Spastic diplegia ORPHA:85335
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum, Simplified gy... OMIM:619244
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Hypoplasia of the brainstem, Cerebellar hypoplasia, Ventriculomegaly OMIM:616486
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation OMIM:615889
Triploidy
Omphalocele, Hepatomegaly, Finger syndactyly, Intestinal malrotation, Polyhydramnios, Abnormality... ORPHA:3376
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Lateral v... OMIM:608629
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Pectus excavatum, Splenomegaly, Faci... OMIM:616843
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test, Ventriculomegaly ORPHA:1261
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... OMIM:616827
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Facial palsy, Inability to walk, Hydrocephalus, Cardiomyopathy, Cer... OMIM:613155
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... ORPHA:251347
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Lissencephaly, X-Linked, 1
Ataxia, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callos... OMIM:300067
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu... OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Sonoda Syndrome
Ventricular septal defect, Narrow mouth OMIM:270460
Trisomy 1Q
Omphalocele, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Congenital diaph... ORPHA:261344
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ... ORPHA:97214
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, High palate, Atrial septal defect, Clinodactyl... OMIM:201000
Fibrochondrogenesis 1
Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent... OMIM:228520
Ehlers-Danlos Syndrome, Periodontal Type, 2
Prominent superficial veins, Inguinal hernia, Atypical scarring of skin, Umbilical hernia, Colon ... OMIM:617174
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Exaggerated cupid's bow, Micrognathia, Deep philtrum, Patent ductus ar... ORPHA:261120
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata... OMIM:616204
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we... ORPHA:171442
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Cerebellar hypoplasia, Ventriculomegaly... OMIM:616531
Lethal Congenital Contracture Syndrome 10
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Thora... OMIM:617022
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Aganglion... ORPHA:171680
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Abnormal thorax morphology, G... OMIM:269920
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... ORPHA:423275
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... ORPHA:2041
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplif... OMIM:616212
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M... ORPHA:555877
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary centr... OMIM:608227
Emanuel Syndrome
Torticollis, Inguinal hernia, Dental crowding, Intestinal malrotation, Congenital diaphragmatic h... OMIM:609029
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio... OMIM:302500
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Torticollis, Lower limb spasticity, Peripheral ... OMIM:619686
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal ... OMIM:618387
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly ORPHA:2512
Mosaic Trisomy 1
Thoracic scoliosis, Congenital diaphragmatic hernia, Polyhydramnios, Orofacial cleft, Finger clin... ORPHA:1692
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Arterial Tortuosity Syndrome
Carotid artery dissection, Congenital diaphragmatic hernia, Flexion contracture, Pectus carinatum... OMIM:208050
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Simplified gyral pattern, Bradycardia, Hypertrophic ... OMIM:618815
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca... OMIM:618736
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... OMIM:613728
Epilepsy, Progressive Myoclonic, 9
Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly OMIM:616540
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect, Micrognathia ORPHA:1918
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Periventricular heterotopia, Hypoplasia of the pons, Parti... OMIM:616171
Indomethacin Embryofetopathy
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios ORPHA:1909
Endocardial Fibroelastosis
Sandal gap, Congestive heart failure, Endocardial fibroelastosis, Restrictive cardiomyopathy, Abn... ORPHA:2022
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... ORPHA:370022
Short-Rib Thoracic Dysplasia 12
Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Thoracic dysplasia, Narrow chest, Sh... OMIM:269860
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Hypoplasia ... OMIM:617751
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)
Frontal polymicrogyria, Broad-based gait, Hypoplasia of the pons, Babinski sign, Perisylvian poly... OMIM:606854
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Mogs-Cdg
Hepatomegaly, Atrial septal defect, Thoracic scoliosis, Pulmonary edema, Edema, Cardiomegaly, Pol... ORPHA:79330
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Spastic tetraplegia, Spa... OMIM:617207
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Peripheral axonal neuropathy, A... OMIM:617225
Developmental And Epileptic Encephalopathy 97
Ventriculomegaly OMIM:619561
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Idiopathic Congenital Hypothyroidism
Facial edema, Delayed proximal femoral epiphyseal ossification, Macroglossia, Bradycardia, Abnorm... ORPHA:95717
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot, Cleft palate ORPHA:217
Kleeblattschaedel
Hydrocephalus OMIM:148800
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly ORPHA:3207
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Edema, Malabsorption, Pulmonary embolism, Clubbing, Clubbin... OMIM:226300
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Abnormal clavicle morphology, Sandal gap, Camptodactyly ... ORPHA:1520
Maternally-Inherited Diabetes And Deafness
Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Arrhythmia, Macular dy... ORPHA:225
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Emanuel Syndrome
Multiple joint contractures, Dental crowding, Congenital hip dislocation, Congenital diaphragmati... ORPHA:96170
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Pigmentary retinopathy, M... OMIM:618234
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ata... OMIM:616230
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Abnormal cerebral vascular morphology... ORPHA:363705
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia of the ve... OMIM:607596
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Impaired vibratory sensation, Decreased motor nerve conduction velocity, Decr... OMIM:607250
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal... ORPHA:254534
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... ORPHA:324604
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... ORPHA:63260
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot... OMIM:615362
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele OMIM:258320
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Intestinal pseudo-obstruction, Bi... OMIM:616201
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy... ORPHA:272
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomyopathy, Hypoplastic spleen,... OMIM:619313
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet... OMIM:616127
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Congenital diaphragmatic hernia, Proximal placement of thumb, Tapered finge... ORPHA:251071
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Congestiv... ORPHA:615
Joubert Syndrome 24
Ataxia, Dysmetria, Gait disturbance, Cerebellar hypoplasia, Spasticity, Pachygyria, Polymicrogyria OMIM:616654
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Scimitar Syndrome
Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Sing... ORPHA:185
Sialidosis Type 2
Skeletal muscle atrophy, Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Short ... ORPHA:87876
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Spinocereb... OMIM:164400
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Hydrocephalus ORPHA:83473
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Gray matter heterotopia, Lateral ventricle dilatation, Bradycardia, Cerebell... OMIM:617397
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus OMIM:125370
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Everted lower lip vermilion, Pu... OMIM:249670
Cantu Syndrome
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga... OMIM:239850
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... ORPHA:85451
Spinocerebellar Ataxia 12
Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, H... OMIM:604326
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Combined Oxidative Phosphorylation Deficiency 17
Death in infancy, Hypertrophic cardiomyopathy, Congestive heart failure, Death in childhood OMIM:615440
Spinocerebellar Ataxia 2
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:183090
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Cong... ORPHA:2311
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Difficulty walking OMIM:619425
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Macroglossia, Umbilical hernia OMIM:275100
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Subdural hemorrhage, Lateral ventricle ... OMIM:618291
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hy... OMIM:600001
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal de