Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
homeobox A1
Synonyms:
ERA1,  early retinoic acid,  Hox-1.6

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Hoxa1 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.

The table below shows human diseases associated to Hoxa1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Athabaskan Brainstem Dysgenesis Syndrome
Sensorineural hearing impairment, Central hypoventilation OMIM:601536

The table below shows human diseases predicted to be associated to Hoxa1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... OMIM:124490
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Pendred Syndrome
Sensorineural hearing impairment, Ataxia, Respiratory insufficiency, Enlarged vestibular aqueduct... ORPHA:705
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... ORPHA:3232
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... OMIM:113650
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Tick-Borne Encephalitis
Abnormality of the vestibular nerve, Abnormal autonomic nervous system physiology, Abnormal brain... ORPHA:297
Bor Syndrome
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... ORPHA:107
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... OMIM:605285
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology ORPHA:3465
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Warsaw Breakage Syndrome
Cutis marmorata, Cupped ear, Hypoplasia of the cochlea, Optic disc coloboma, Hearing impairment OMIM:613398
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... OMIM:611584
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Chiari type I malformation, Ear pain, Abnormal glossophary... ORPHA:221098
Bilateral Polymicrogyria
Facial diplegia, Sensorineural hearing impairment, Cerebellar atrophy, Aplasia/Hypoplasia of the ... ORPHA:268940
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Arnold-Chiari Malformation Type I
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Myelopathy, Abnormality of ... ORPHA:268882
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Hypothyroidism, Goiter, Right aortic arch OMIM:617577
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Over... OMIM:601927
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... ORPHA:3384
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... OMIM:618300
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... OMIM:617912
Meacham Syndrome
Enlarged kidney, Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, ... OMIM:608978
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Myoclonus, Rigidity, Optic atrophy, Neonatal respiratory distress, Hearing ... OMIM:619057
Catel-Manzke Syndrome
Short neck, Coarctation of aorta, Camptodactyly, Ventricular septal defect, Dextrocardia, Cystic ... OMIM:616145
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Facial palsy, Vocal cord paralysis OMIM:607641
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis, Dystonia, Axonal loss OMIM:300857
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Webbed neck, Atrial septal defect, Tetralogy of Fallot, Ventricular septal def... OMIM:617478
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Lethal Congenital Contracture Syndrome 10
Torticollis, Hypoplasia of the thymus, Short neck, Ventricular septal defect, Stiff neck, Overrid... OMIM:617022
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Ataxia, Respiratory insufficiency, Rigidity, Sensory axonal neuropathy, Neonatal death, Sp... OMIM:610127
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Cryptorchidism, Pulmonic stenosis, Tetralogy... ORPHA:3304
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Cerebellar vermis hypoplasia, Spastic tetraparesis, Hearing impairment... OMIM:616081
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect OMIM:618496
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Transposition of the grea... ORPHA:1727
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Paroxysmal... OMIM:606777
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude OMIM:613641
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphr... ORPHA:1120
Digeorge Syndrome
Hydrocele testis, Cholelithiasis, Decreased circulating parathyroid hormone level, Splenomegaly, ... OMIM:188400
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Sensorineural hearing impairment, Clumsiness, Myoclonus, Limb myoclonus, Abnormal lower motor neu... ORPHA:2590
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Peripheral axonal neuropathy, Neonatal death, Abnormal anterior horn cell morpho... OMIM:611890
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Distal Monosomy 10Q
Facial diplegia, Congenital sensorineural hearing impairment, Protruding ear, Cochlear malformati... ORPHA:96148
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Usher Syndrome Type 1
Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, Aplasia/Hypoplasia of the cere... ORPHA:231169
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Johnson Neuroectodermal Syndrome
Hypogonadotropic hypogonadism, Ventricular septal defect, Patent ductus arteriosus, Decreased tes... OMIM:147770
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Abnormal pinna morphology, Respiratory failure, Cerebellar hypoplasia, Respiratory insufficiency ... OMIM:618291
Apert Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Hydrocephalus, Respiratory insuf... ORPHA:87
Optic Atrophy 11
Facial diplegia, Ataxia, Dysmetria, Hyperkinetic movements, Cerebellar hypoplasia, Optic atrophy,... OMIM:617302
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... ORPHA:284169
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, Voca... OMIM:162500
Otofaciocervical Syndrome 1
Conductive hearing impairment, Cupped ear, Mixed hearing impairment, Hypoplasia of the cochlea OMIM:166780
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Foot dorsiflexor weak... ORPHA:477817
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... ORPHA:71277
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Parkinsonism, Paralysis OMIM:105500
Crouzon Syndrome
Conductive hearing impairment, Hydrocephalus, Respiratory insufficiency, Cerebellar hypoplasia, O... ORPHA:207
Charge Syndrome
Webbed neck, Ventricular septal defect, Umbilical hernia, Aplasia/Hypoplasia of the thymus, Parat... OMIM:214800
Velocardiofacial Syndrome
Hypoparathyroidism, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Ventricula... OMIM:192430
Branchiootic Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Branchial fistula,... ORPHA:52429
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Holoprosencephaly, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of... ORPHA:990
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Spinocerebellar atrophy, Conjunctival telangiectasia, Head tremor,... ORPHA:95433
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Noonan Syndrome
Thickened helices, Sensorineural hearing impairment, Aplasia of the semicircular canal, Low-set, ... ORPHA:648
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Maternal diabetes, Mitral atresia,... ORPHA:2248
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Myoclonus, Optic atrophy, Spasticity, Macrotia, Dandy-Walker malformation OMIM:617281
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Diastasis recti, Pulmonary valve atresi... OMIM:265380
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Aspirat... ORPHA:90117
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm OMIM:614823
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231183
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Peripheral axonal neuropathy OMIM:613710
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect OMIM:613355
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Intermediate Nemaline Myopathy
Facial diplegia, Low-set ears, Respiratory failure, Facial palsy ORPHA:171433
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... ORPHA:1686
Aortic Aneurysm, Familial Thoracic 12
Ascending tubular aorta aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Aortic root... OMIM:619825
Paragangliomas 2
Glomus jugular tumor, Glomus tympanicum paraganglioma, Vagal paraganglioma, Chemodectoma, Vocal c... OMIM:601650
Microphthalmia, Syndromic 9
Atrial septal defect, Congenital diaphragmatic hernia, Multilobulated spleen, Pulmonic stenosis, ... OMIM:601186
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Superficial Siderosis
Abnormal cerebellar vermis morphology, Atrophy/Degeneration affecting the brainstem, Cerebellar a... ORPHA:247245
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Cerebellar hypoplasia, Aplasia/Hypoplasia of the external ear, Spasti... ORPHA:168486
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Respiratory failure, Dyspnea, Low-set ears, Posteriorly rotated ears ORPHA:1832
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... OMIM:600001
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Myoclonus, Hypoplasia of the pons, Optic atrophy, Spasticity, Hearing impairment OMIM:617669
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc... OMIM:609136
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnormal cranial nerve morp... ORPHA:90024
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Ventricular septal defect, Pancreatic hypoplasia, Aplasia/Hypoplasia... ORPHA:2255
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Atrophy/Degeneration affecting the brainstem, Spasticity, Death in infancy, Hearing impair... OMIM:616277
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Bicuspid aortic valve, Stroke, Descendin... ORPHA:91387
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale,... ORPHA:500159
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Death in childhood, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy, Hypogonadism, Diabetes mellitus OMIM:615981
Heart And Brain Malformation Syndrome
Ventricular septal defect, Limb hypertonia, Interrupted aortic arch, Camptodactyly of finger OMIM:616920
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis OMIM:606183
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Nodular goiter, Prema... ORPHA:371428
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... OMIM:607706
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Death in childhood, Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava ... OMIM:613759
Schuurs-Hoeijmakers Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Patent ductus arteriosus, Patent foram... OMIM:615009
Leigh Syndrome
Sensorineural hearing impairment, Ataxia, Focal substantia nigra T2 hyperintensity, Respiratory i... OMIM:256000
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... ORPHA:2306
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Macrotia ORPHA:397933
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic va... ORPHA:210122
Contractural Arachnodactyly, Congenital
Hip contracture, Bicuspid aortic valve, Atrial septal defect, Short neck, Wrist flexion contractu... OMIM:121050
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus, Patent ... OMIM:619149
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Stroke, Atrial septal defect, Aortic valve stenosis, Anomalous branches of... ORPHA:363705
Sneddon Syndrome
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Lymphopenia, Facial palsy, Ischemic stroke OMIM:182410
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Vascu... ORPHA:2041
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Hypertonia, Respiratory insufficiency, Peripheral axonal neuropathy, Central apnea, Death in infa... OMIM:611722
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Patent urachus, Unilateral cryptorchidism, Tetralogy ... OMIM:618280
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
3-Methylglutaconic Aciduria, Type Viii
Sensorineural hearing impairment, Apnea, Hypertonia, Tremor, Death in infancy, Respiratory failure OMIM:617248
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:329224
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Hypogonadotropic hypogonadism, Pulmonary artery hypoplasia, Anomal... ORPHA:2326
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Abnormal aortic valve cusp morphology, Left ventricular hypertrophy, Abnor... ORPHA:99094
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Short neck, Patent ductus arteri... OMIM:239850
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Pulmonic stenosis, Subvalvular aortic stenosis, Pulmonary artery dilatatio... OMIM:620067
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Hypertonia, Ataxia, Clumsiness, Decreased motor nerve conduction velocity, Babinski sign, Abnorma... OMIM:616688
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Microtia, Overfolded... ORPHA:79113
Phosphoserine Aminotransferase Deficiency
Apnea, Hypertonia, Myoclonus, Cyanotic episode, Cerebellar vermis hypoplasia, Death in infancy OMIM:610992
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Profound sensorineural hearing impairment, Microtia, first degree, Aplasia of the inner ear, Ante... OMIM:610706
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Familial Bicuspid Aortic Valve
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Hypoplastic left heart,... ORPHA:402075
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Hearing impairment, Choreoathetosis, Myoclonus OMIM:609056
Meckel Syndrome, Type 7
Aortic valve stenosis, Atrial septal defect, Right ventricular hypertrophy, Hepatosplenomegaly, S... OMIM:267010
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Parathyroid hypoplasia, Diabetes mellitus, Abnormal heart morphology ORPHA:2237
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Pulmonary artery hyp... OMIM:613426
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Tongue fasciculations, Abnormal motor nerve cond... OMIM:614399
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Myoclonus, Hypoplasia of the pons, C... OMIM:225753
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Aortic valve stenosis, Short neck, Patent ductus arteriosus, Cryptorchidis... OMIM:243310
Riboflavin Transporter Deficiency
Sleep apnea, Ataxia, Abnormal autonomic nervous system physiology, Respiratory insufficiency, Myo... ORPHA:97229
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Abdominal aortic aneurysm, Aortic arch aneurysm, Aortic root aneurysm, Cor... OMIM:617168
Pontocerebellar Hypoplasia, Type 1E
Myoclonus, Hypoplasia of the pons, Cerebellar hypoplasia, Respiratory failure requiring assisted ... OMIM:619303
Gorham-Stout Disease
Torticollis, Abnormality of the internal auditory canal, Pleural effusion, Rhinorrhea, Hearing im... ORPHA:73
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Umbilical hernia OMIM:617751
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Sensorineural hearing impairment, Facial diplegia, Hyperkinetic movements, Athetosis, Spasticity,... OMIM:612073
Combined Saposin Deficiency
Myoclonus, Babinski sign, Hyperkinetic movements, Optic atrophy, Death in infancy, Fasciculations OMIM:611721
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia, Telangiectasia of the skin, Hemiplegia/hemiparesis, Myoclonus, Abnormal pyramidal... ORPHA:79279
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Paralysis OMIM:616286
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal... OMIM:619343
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Patent ductus arteriosus, Right ventricular hypertrophy OMIM:613623
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Pa... ORPHA:2847
Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Absent gallbladder, Patent ductus arteriosus, Cr... OMIM:300712
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Progressive cerebellar ataxia, Bradykinesia, Dys... ORPHA:98755
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Knee flexion contracture, Skeletal muscle atroph... OMIM:603387
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Aortic tortuosity, Arterial tortuosity, Mitral valve prolapse... OMIM:614816
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Aortic valve stenosis, Atrial ... OMIM:108800
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... OMIM:249670
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Optic atrophy, Tremor, Choreoathetosis, Hearing... ORPHA:391417
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Bilateral se... ORPHA:2589
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal pons morphology, Poor gross motor coordination, Respiratory insufficiency, Cerebellar hy... ORPHA:370968
Pulmonary Hypertension, Primary, 1
Right ventricular hypertrophy, Pulmonary aterial intimal fibrosis, Arterial intimal fibrosis, Pul... OMIM:178600
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Wolfram-Like Syndrome
Congenital sensorineural hearing impairment, Abnormal pinna morphology, Progressive cerebellar at... ORPHA:411590
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve, Cryptorchidism, Decreased testicular size OMIM:300997
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Abnormal pinna morphology, Respiratory failure, Neonatal death OMIM:228940
Hereditary Motor And Sensory Neuropathy, Type Iic
Sensorineural hearing impairment, Stridor, Decreased distal sensory nerve action potential, Vocal... OMIM:606071
Spinocerebellar Ataxia Type 37
Sensorineural hearing impairment, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Myoclonu... ORPHA:363710
Hsd10 Disease, Infantile Type
Poor coordination, Spastic diplegia, Cyanosis, Hyperkinetic movements, Optic atrophy, Choreoathet... ORPHA:391428
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment OMIM:184460
Weiss-Kruszka Syndrome
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Infantile sensorineural hearing impairment, Respiratory insufficiency, Recu... ORPHA:254875
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Myoclonus, Ataxia OMIM:159800
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Smith-Magenis Syndrome
Motor stereotypy, Abnormality of the outer ear, Hearing impairment, Morphological abnormality of ... OMIM:182290
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Anemia, Intracranial hemorrhage, Thrombocytopenia, Ventricular septal defec... ORPHA:163979
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Respiratory insufficiency, Myoclonus, Optic atrophy, Spasticity, Death in infancy, Respir... OMIM:614299
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Abnormal coronary artery morphology, Te... ORPHA:980
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... ORPHA:324604
1Q21.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Cryptorchidism, Interrupted aortic arch, Patent ductus arteri... ORPHA:250989
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Tetralogy of Fallot, Ventricular septal defect, Abnormality of t... ORPHA:1166
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:90103
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... ORPHA:449400
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:614895
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephrogenic diabetes insipidus, Hepatomegaly, Right ventricular hypertrophy, Ventricular septal d... OMIM:613404
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Bicuspid aortic valve, Aortic valve stenosis OMIM:615599
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment OMIM:185800
Feingold Syndrome Type 1
Tricuspid atresia, Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular se... ORPHA:391641
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... ORPHA:99095
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Respiratory failure requiring assisted ventilation, Optic at... ORPHA:496641
Spinocerebellar Ataxia Type 3
Clumsiness, Progressive cerebellar ataxia, Abnormal pyramidal sign, Vocal cord paralysis, Dystoni... ORPHA:98757
Congenital Disorder Of Glycosylation, Type In
Sensorineural hearing impairment, Ataxia, Respiratory insufficiency, Myoclonus, Spasticity OMIM:612015
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Ataxia, Dilata... ORPHA:1435
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect OMIM:615297
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Stiff Skin Syndrome
Bicuspid aortic valve, Elbow flexion contracture, Knee flexion contracture, Camptodactyly OMIM:184900
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrogenic diabetes insipidus, Atrial septal defect, Right ventricular hypertrophy, Ventricular ... OMIM:208085
Kleefstra Syndrome
Bicuspid aortic valve, Cryptorchidism, Macroglossia, Supernumerary nipple, Coarctation of aorta, ... ORPHA:261494
Retinitis Pigmentosa 89
Bicuspid aortic valve, Hepatosplenomegaly OMIM:618955
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Nemaline Myopathy 8
Facial palsy, Respiratory failure, Death in infancy OMIM:615348
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect OMIM:617744
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Pontocerebellar Hypoplasia, Type 1D
Respiratory insufficiency, Fasciculations, Tongue fasciculations, Spasticity, Cerebellar atrophy,... OMIM:618065
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrial septal defect, Macroglossia, Atrioventricular canal defect, Ventric... ORPHA:453499
Oculoauriculovertebral Spectrum With Radial Defects
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2549
Craniosynostosis And Dental Anomalies
Stapes ankylosis, Conductive hearing impairment, Papilledema, Absent malleus, Chronic otitis medi... OMIM:614188
Pontocerebellar Hypoplasia, Type 7
Apnea, Hydrocephalus, Ataxia, Hypertonia, Opisthotonus, Myoclonus, Hypoplasia of the pons, Cerebe... OMIM:614969
Phaver Syndrome
Myelomeningocele, Camptodactyly of finger, Coarctation of aorta, Pulmonary artery atresia, Ventri... ORPHA:2876
Perlman Syndrome
Congenital diaphragmatic hernia, Hypoplasia of the abdominal wall musculature, Pancreatic islet-c... OMIM:267000
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Death in childhood, Neonatal death, Death in infancy, Neonatal respira... OMIM:245400
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Atrial septal defect, Hepatomegaly, ... ORPHA:84064
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Double aortic arch, Tetralogy of Fallot, Ventricular sept... ORPHA:95430
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Charge Syndrome
Hypoplasia of the semicircular canal, Aqueductal stenosis, Microtia, Overfolded helix, Holoprosen... ORPHA:138
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Abnormal pinna morphology, Myoclonus, Dilated fourth ventricle, Cerebellar hypoplasia... ORPHA:3078
Noonan Syndrome 9
Webbed neck, Pulmonic stenosis, Short neck, Coarctation of aorta, Ventricular septal defect, Cryp... OMIM:616559
Infantile Krabbe Disease
Respiratory distress, Decreased nerve conduction velocity, Opisthotonus, Ankle clonus, Decerebrat... ORPHA:206436
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Hypoplastic left heart, Pulmonic stenosis, Coa... ORPHA:3426
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Thickened nuchal skin f... OMIM:618164
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Sensorineural hearing impairment, Ataxia, Spasticity, Myoclonus OMIM:545000
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Ataxia, Cerebellar gliosis, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Pe... OMIM:616505
X Small Rings
Mitral stenosis, Bicuspid aortic valve, Short neck, Ventricular septal defect, Aortic root aneury... ORPHA:96201
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Presynaptic Congenital Myasthenic Syndromes
Sensorineural hearing impairment, Ataxia, Episodic respiratory distress, Respiratory arrest, Cent... ORPHA:98914
Congenital Myasthenic Syndrome
Sensorineural hearing impairment, Ataxia, Episodic respiratory distress, Respiratory arrest, Cent... ORPHA:590
Brown-Vialetto-Van Laere Syndrome 1
Sensorineural hearing impairment, Respiratory distress, Abnormal cerebellum morphology, Ataxia, C... OMIM:211530
Muscular Dystrophy, Congenital, 1B
Facial palsy, Respiratory failure OMIM:604801
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short neck, Ventricular septal defect, Webbed neck, Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Severe Congenital Nemaline Myopathy
Facial diplegia, Low-set ears, Respiratory failure, Facial palsy ORPHA:171430
Microtriplication 11Q24.1
Attached earlobe, Hyperkinetic movements, Speech apraxia, Hearing impairment, Posteriorly rotated... ORPHA:289522
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Hypertonia, Exaggerated startle response, Optic atrophy, Clonus, Low-set ears, Respiratory... OMIM:617301
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Polysple... OMIM:306955
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Unilateral vestibular schwannoma OMIM:603641
Spinal Muscular Atrophy, Type I
Death in childhood, Respiratory insufficiency, Respiratory failure, Tongue fasciculations OMIM:253300
Tetrasomy 5P
Respiratory distress, Hydrocephalus, Wide anterior fontanel, Cyanosis, Cerebellar hypoplasia, Low... ORPHA:3309
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Mixed hearing impairmen... OMIM:609166
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Aortic valve stenosis, Coarctation of aorta, Interrupted aortic arch, A... ORPHA:2396
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Left ventricular hypertrophy, Hemorrhagic ovarian cyst, Decreased ... ORPHA:335
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Overfolded helix, Abnormal antitragus morphology, Respiratory failure, Dysp... ORPHA:2759
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Flexion contracture, Hypertrophic cardiomyopathy, Increased variability in muscle f... ORPHA:17
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Adrenal insufficiency, Tetralogy of Fallot ORPHA:251076
Alg3-Cdg
Abnormality of the endocrine system, Macroglossia, Coarctation of the descending aortic arch, Neu... ORPHA:79321
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Intention tremor, Truncal ataxia, Cerebellar hypoplasia, Prominent antihelix, Macrotia, Acrocyanosis OMIM:614407
Variegate Porphyria
Paralysis OMIM:176200
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Sensorineural hearing impairment, Hypertonia, Opisthotonus, Cerebral palsy, Babinski sign, Myoclo... OMIM:619847
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Ataxia, Respiratory failure, Communicating hydrocephalus ORPHA:1861
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Bicuspid aortic valve OMIM:616201
Madras Motor Neuron Disease
Sensorineural hearing impairment, Abnormal cerebellum morphology, Babinski sign, Limb fasciculati... ORPHA:137867
Cardiac Valvular Dysplasia, X-Linked
Mitral valve prolapse, Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Sho... OMIM:314400
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Cerebellar ... OMIM:618876
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Distal Monosomy 15Q
Mitral stenosis, Double outlet right ventricle with doubly committed ventricular septal defect an... ORPHA:1596
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Aortic root aneurysm, Umbilical hernia, Arterial tortuosity, Aortic ar... OMIM:610168
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, He... ORPHA:139485
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Coarctation of aorta, Ventricular septal defect, Hypothyroidism... ORPHA:1923
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Leigh Syndrome
Ataxia, Chorea, Athetosis, Optic atrophy, Spasticity, Respiratory failure, Hyperkinetic movements... ORPHA:506
Brown-Vialetto-Van Laere Syndrome 2
Sensorineural hearing impairment, Ataxia, Clumsiness, Respiratory insufficiency, Tongue fascicula... OMIM:614707
Glycogen Storage Disease 0, Muscle
Stroke, Left ventricular hypertrophy, Decreased muscle glycogen content, Left atrial enlargement,... OMIM:611556
Grange Syndrome
Carotid artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Coronary artery stenosis OMIM:602531
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Pulmonary artery aneurysm, Ascending aortic dissecti... OMIM:609192
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Ataxia, Hypertonia, Central hypoventilation, Abnormal brainstem morp... ORPHA:70474
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory ... ORPHA:2257
Koolen-De Vries Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... OMIM:610443
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Hydrocephalus, Respiratory insufficiency, Aplasia/Hypoplasia of th... ORPHA:93262
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Ankle clonus, Hemiparesis, Tetraparesis, Tongue fasciculations, Respiratory failure OMIM:600561
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Conotruncal defect, Atrioventricular canal defect ORPHA:40366
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia, Abnormal aortic morphology ORPHA:3405
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Secondary hyperparathyroidism, Abnormality of the parathyroid gland ORPHA:140286
Phace Association
Anomalous branches of internal carotid artery, Congenital hypothyroidism, Coarctation of aorta, V... OMIM:606519
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Lateral Meningocele Syndrome
Bicuspid aortic valve, Short neck, Patent ductus arteriosus, Umbilical hernia, Meningocele, Crypt... OMIM:130720
Adams-Oliver Syndrome 5
Right atrial enlargement, Splenomegaly, Pulmonic stenosis, Right ventricular hypertrophy, Patent ... OMIM:616028
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Spastic tet... OMIM:272750
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Sensorineural hearing impairment, Respiratory distress, Ataxia, Death in childhood, Truncal ataxi... OMIM:220110
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Hyperkinetic movements, Tremor, Cerebellar dysplasia, Macrotia, Upper limb spas... ORPHA:457240
Narp Syndrome
Ataxia, Babinski sign, Myoclonic spasms, Optic disc pallor, Progressive gait ataxia, Hearing impa... ORPHA:644
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Apnea, Ataxia, Recurrent hand flapping, Opisthotonus, Cyanosis, Limb hypertonia... OMIM:619580
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Cerebellar hypoplasia, Head titubation... ORPHA:3240
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Diffuse cerebellar atrophy, Myoclonus, Abnormal pyramidal sign, Hemiparesis, Optic at... ORPHA:352596
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Sensorineural hearing impairment, Conductive hearing impairment, S... ORPHA:794
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Decreased size of nerve terminals, Cyanosis, Orthopnea, Restrictive venti... ORPHA:98913
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Abnormality of the pulmonary ar... ORPHA:1131
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Peripheral axonal neuropathy, Frequent falls, Tremor, Gait atax... OMIM:607317
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Cryptorchidism, Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Diabetic Embryopathy
Abnormality of the neck, Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallo... ORPHA:1926
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Patent foramen ovale OMIM:618027
Lateral Meningocele Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2789
Combined Oxidative Phosphorylation Deficiency 37
Sensorineural hearing impairment, Respiratory insufficiency, Cerebellar hypoplasia, Optic atrophy... OMIM:618329
Fetal Minoxidil Syndrome
Ventricular septal defect, Cryptorchidism, Umbilical hernia ORPHA:1918
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Patent... OMIM:619189
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, A... ORPHA:95434
Combined Oxidative Phosphorylation Deficiency 14
Myoclonus, Atrophy/Degeneration affecting the brainstem, Death in infancy, Cerebellar atrophy, He... OMIM:614946
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland ORPHA:2762
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Death in childhood, Babinski sign, Atrophy/Degeneration affecting the brainstem, Tachypne... OMIM:615838
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Parkinsonism, Pseudopapilledema, Hemiparesis, Tetraparesis, Paralysis ORPHA:140989
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:949
Pontocerebellar Hypoplasia, Type 2E
Large earlobe, Hypertonia, Opisthotonus, Myoclonus, Optic atrophy, Facial telangiectasia, Spastic... OMIM:615851
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Contracture of the proximal interphalangeal joint of the 4th toe, Atrial s... ORPHA:457279
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Flexion contracture, Low posterior hairline, Dilatio... OMIM:619720
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypoplastic left heart, Super... OMIM:100300
Craniometaphyseal Dysplasia
Sensorineural hearing impairment, Abnormal cranial nerve morphology, Facial palsy, Conductive hea... ORPHA:1522
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Left ventricular hy... OMIM:245600
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Cryptorchidism, Truncu... ORPHA:401935
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Hepatomegaly, Lymphopenia, Splenomegaly, Pulmonic stenosis, Anemia... OMIM:612541
Congenital Rubella Syndrome
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Patent ductus arteri... ORPHA:290
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Bicuspid aortic valve, Neutropenia, Bone marrow hypocellularity,... OMIM:614900
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Respiratory insufficiency, Respiratory failure, Spastic tetraplegia OMIM:615330
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Short neck, Ventricular septal de... OMIM:610759
Mitochondrial Complex I Deficiency, Nuclear Type 31
Sensorineural hearing impairment, Death in childhood, Myoclonus, Dysmetria OMIM:618251
9Q31.1Q31.3 Microdeletion Syndrome
Short neck, Bicuspid aortic valve, Dilated cardiomyopathy, Type II diabetes mellitus ORPHA:401923
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ... ORPHA:3236
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... ORPHA:266
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Paralysis, Respiratory paralysis ORPHA:681
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to upper mo... ORPHA:275872
Peroxisomal Acyl-Coa Oxidase Deficiency
Sensorineural hearing impairment, Hypertonia, Respiratory insufficiency, Optic atrophy, Death in ... ORPHA:2971
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... OMIM:613834
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Benign Schwannoma
Schwannoma, Facial palsy, Vestibular schwannoma, Abnormality of the twelfth cranial nerve, Hearin... ORPHA:252164
Neuropathy, Congenital Hypomyelinating, 3
Facial diplegia, Low-set ears, Respiratory insufficiency, Babinski sign, Spasticity, Cerebellar a... OMIM:618186
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Respiratory insufficiency,... OMIM:607596
Apert Syndrome
Ventricular septal defect, Cryptorchidism, Overriding aorta, Delayed eruption of teeth OMIM:101200
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Paralysis, Respiratory insufficie... ORPHA:18
Squalene Synthase Deficiency
Bicuspid aortic valve, Bilateral cryptorchidism, Elbow flexion contracture, Knee flexion contracture OMIM:618156
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Camptodactyly OMIM:618529
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Spina bifida occulta, Bicuspid aortic valve OMIM:300707
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Low-set ears, Respiratory failure, Death in infancy ORPHA:1194
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Sensorineural hearing impairment, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor,... OMIM:618170
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve OMIM:619641
Fibrodysplasia Ossificans Progressiva
Sensorineural hearing impairment, Conductive hearing impairment, Respiratory insufficiency, Respi... OMIM:135100
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Congenital diaphragmatic hernia, Ventricular septal defect, Histiocytoid ca... OMIM:309801
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins OMIM:126320
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Aortic valve stenosis, Dysplastic ... ORPHA:1600
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Transaldolase Deficiency
Atrial septal defect, Hepatosplenomegaly, Coarctation of aorta, Biventricular hypertrophy, Anemia... ORPHA:101028
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Overfolded helix, Myoclonus, Tremor, Gai... OMIM:619092
Primary Ciliary Dyskinesia
Conductive hearing impairment, Hydrocephalus, Airway obstruction, Chronic otitis media, Neonatal ... ORPHA:244
Bronchopulmonary Dysplasia
Right ventricular hypertrophy ORPHA:70589
Mitochondrial Complex I Deficiency, Nuclear Type 1
Sensorineural hearing impairment, Apnea, Optic neuropathy, Ataxia, Respiratory insufficiency, Cya... OMIM:252010
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Ankle clonus, Babinski sign, Tetraparesis, Abnormal lower motor neuron morphology, Spasticity, Fa... OMIM:613954
Intellectual Developmental Disorder, X-Linked 12
Sensorineural hearing impairment, Abnormal cerebellum morphology, Hyperkinetic movements, Tremor,... OMIM:300957
Spinocerebellar Ataxia Type 13
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Optic atrophy, Optic disc pallor, ... ORPHA:98768
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydrocele testis, Peripheral pulmonary artery stenosis, Atrial septal defect, Right ventricular h... ORPHA:280633
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Webbed neck, Hydranencephaly, Truncus arteriosus OMIM:601355
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect OMIM:615502
Neutral Lipid Storage Disease With Myopathy
Sensorineural hearing impairment, Fasciculations OMIM:610717
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, Hepatomegal... OMIM:300400
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Facial palsy, Myoclonus, Fasciculations, Frequent falls, Tre... OMIM:159950
Spinocerebellar Ataxia Type 36
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Limb ataxia, Dysmetria, Hand tremor, Int... ORPHA:276198
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Chorea, Tremor, Spasticity, Postural tremor, Tongue f... ORPHA:99
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Dy... ORPHA:98810
Ciliary Dyskinesia, Primary, 5
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, R... OMIM:608647
Hyperekplexia 4
Hypertonia, Myoclonus, Respiratory failure, Umbilical hernia OMIM:618011
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Low-set ears, Lobar holoprosencephaly OMIM:614701
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Joint contracture of the hand, Pulmonic sten... OMIM:179613
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:618652
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Patent ... OMIM:601005
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart OMIM:619721
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy ORPHA:444013
Lambert Syndrome
Ventricular septal defect, Branchial anomaly ORPHA:1296
Fryns Syndrome
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Thickened nuchal skin fold, ... ORPHA:2059
Sandestig-Stefanova Syndrome
Low-set ears, Angulated antihelix, Respiratory failure, Underdeveloped tragus OMIM:618804
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Microtia, Respiratory insufficiency, Optic atrophy, Hearing impa... ORPHA:1914
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Congenital Aortic Valve Stenosis
Aortic valve calcification, Aortic valve stenosis, Aortic valve atresia, Thoracic aortic aneurysm... ORPHA:3093
Distal Tetrasomy 15Q
Hydrocele testis, Atrial septal defect, Flexion contracture, Camptodactyly, Patent ductus arterio... ORPHA:314588
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Atrial septal defect, Supernumerary nipple, Macroglossia, Type 1 muscle fi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Supernumerary nipple, Macroglossia, Type 1 muscle fi... ORPHA:352665
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Overriding aorta, Tetralogy of Fallot ORPHA:3186
Tarp Syndrome
Abnormal antihelix morphology, Apnea, Cyanosis, Low-set, posteriorly rotated ears, Cerebellar hyp... ORPHA:2886
Developmental And Epileptic Encephalopathy 37
Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Cogwheel rigidity, Choreoathetosis, Spastici... OMIM:616981
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Transaldolase Deficiency
Atrial septal defect, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Short neck, Coarctation of ... OMIM:606003
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Decreased nerve conduction velocity, Axonal degeneration, Degeneration of anterior horn cells, Pe... OMIM:604320
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Aortic tortuosity, Subarachnoid hemorrhage, Dilatation of the sinus o... OMIM:613795
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Short neck, Coarctation of aorta, Tetralogy... ORPHA:508498
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hypertonia, Ataxia, Decreased nerve conduction velocity, Dysmetria, Intention tremor, Respiratory... OMIM:618356
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Fasciculations OMIM:615575
Leukodystrophy, Hypomyelinating, 10
Low-set ears, Babinski sign, Hyperkinetic movements, Spasticity, Hearing impairment OMIM:616420
Noonan Syndrome 8
Webbed neck, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Short neck, V... OMIM:615355
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Sideroblastic anemia, Patent ductus arteriosus, Thrombocytopenia OMIM:617021
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... ORPHA:3097
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries, Venou... ORPHA:2969
Deafness-Lymphedema-Leukemia Syndrome
Sensorineural hearing impairment, Bruising susceptibility, Chronic otitis media, Vertigo, Respira... ORPHA:3226
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Poor fine motor coordination, Hand tremor, Babinski sign, Sensory axonal neuropathy, Optic atroph... ORPHA:99947
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Motor stereotypy, Myoclonus, Hypoplasia of the pons ORPHA:411986
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Schinzel-Giedion Syndrome
Large earlobe, Low-set ears, Abnormal helix morphology, Infantile sensorineural hearing impairmen... ORPHA:798
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... OMIM:612946
Ceroid Lipofuscinosis, Neuronal, 3
Abnormal cerebellum morphology, Myoclonus, Parkinsonism, Optic atrophy, Abnormality of extrapyram... OMIM:204200
Hereditary Methemoglobinemia
Hypertonia, Cyanosis, Athetosis, Spasticity, Cerebellar atrophy, Spastic tetraplegia, Exertional ... ORPHA:621
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Death in childhood, Hypoplasia of the thymus, Ventricular septal defec... OMIM:243150
Noonan Syndrome 12
Lymphopenia, Decreased response to growth hormone stimulation test, Tetralogy of Fallot, Ventricu... OMIM:618624
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Hepatomegaly, Death in infancy OMIM:614876
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Tongue fasciculations, Fasciculations, Abnormal sensory nerve conduction velocity ORPHA:276435
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
22Q11.2 Deletion Syndrome
Tricuspid atresia, Cholelithiasis, Short neck, Ventricular septal defect, Abnormality of the tons... ORPHA:567
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Low-set ears, Respiratory failure OMIM:617895
Episodic Ataxia Type 7
Tinnitus, Vertigo, Hyperkinetic movements, Episodic ataxia ORPHA:209970
Juvenile Sialidosis Type 2
Low-set ears, Ataxia, Dysmetria, Myoclonus, Optic atrophy, Spasticity, Umbilical hernia, Hearing ... ORPHA:93399
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Short neck, Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart ORPHA:2001
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Unilateral Polymicrogyria
Apnea, Pseudobulbar paralysis, Infantile sensorineural hearing impairment, Poor fine motor coordi... ORPHA:268943
Multiple Acyl-Coa Dehydrogenase Deficiency