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
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Abnormality of the stapes, Facial paralysis, External ear malforma... OMIM:124490
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Ataxia, Enlarged vestibular aqueduct, Respiratory insufficien... ORPHA:705
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular Schwannoma OMIM:613641
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic valve, Transp... OMIM:612474
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, Br... ORPHA:107
Tick-Borne Encephalitis
Abnormal brainstem MRI signal intensity, Tremor, Vertigo, Incoordination, Abnormal cranial nerve ... ORPHA:297
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Branchial fistula, Low-set ears, Cupped ear, Se... OMIM:602588
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Peripheral hypomyelination, Paral... OMIM:605285
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Premature graying of hair, Hypertonia, Morphological abnorm... OMIM:611584
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Branchial cyst, Conductive hearing impairment, Branchial fistula, Cupp... OMIM:113650
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries, Ventricula... OMIM:231060
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Glossopharyngeal Neuralgia
Arnold-Chiari type I malformation, Cranial nerve compression, Abnormal glossopharyngeal nerve mor... ORPHA:221098
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Ataxia, Respiratory insufficiency, Low-set ears, Sensory axonal neuropathy, Cerebellar atr... OMIM:610127
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Goiter, Hypothyroidism, Dextrocardia, Right aortic arch OMIM:617577
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Bilateral Polymicrogyria
Low-set ears, Abnormal glossopharyngeal nerve morphology, Sensorineural hearing impairment, Cereb... ORPHA:268940
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Digeorge Syndrome
Right aortic arch with mirror image branching, Decreased circulating parathyroid hormone level, T... OMIM:188400
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Warsaw Breakage Syndrome
Hypoplasia of the cochlea, Cupped ear, Hearing impairment, Cutis marmorata OMIM:613398
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Arnold-Chiari Malformation Type I
Adult onset sensorineural hearing impairment, Vertigo, Brain stem compression, Arnold-Chiari type... ORPHA:268882
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Over... OMIM:601927
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dea... OMIM:618845
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Neuronopathy, Distal Hereditary Motor, Type Viib
Facial palsy, Vocal cord paralysis, Abnormal lower motor neuron morphology OMIM:607641
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Hearing impairment, Respiratory failure, Myoclonus, Aspiration pne... OMIM:619057
Catel-Manzke Syndrome
Cystic hygroma, Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Camptodactyly, U... OMIM:616145
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Aortic root aneurysm OMIM:618496
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Pontocerebellar Hypoplasia, Type 1C
Spastic tetraparesis, Cerebellar vermis hypoplasia, Respiratory insufficiency, Hearing impairment... OMIM:616081
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Torticollis, Cardiomegaly, Overriding aorta,... OMIM:617022
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Hypoplastic... ORPHA:1727
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Double outlet ... ORPHA:3304
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Spina bifida, Atrial septal defect, Abnormal aortic valve morp... ORPHA:1120
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Tremor, Clumsiness, Eyelid myoclonus, Abnormal lower motor neuron... ORPHA:2590
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Bicuspid aortic valve OMIM:300049
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Respiratory insufficiency due to muscle weakness, Low-set... OMIM:611890
Distal Monosomy 10Q
Cochlear malformation, Poor fine motor coordination, Oculomotor apraxia, Cerebellar hypoplasia, A... ORPHA:96148
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Cerebellar hypoplasia, Abnormality of the pinna, Respiratory insufficiency d... OMIM:618291
Optic Atrophy 11
Facial diplegia, Macrotia, Hyperkinetic movements, Cerebellar hypoplasia, Ataxia, Hearing impairm... OMIM:617302
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Patent ductus arteriosus, Facial palsy, Hypogonadotropic hypogonadism,... OMIM:147770
Usher Syndrome Type 1
Aplasia/Hypoplasia of the cerebellum, Ataxia, Sensorineural hearing impairment, Abnormal cochlea ... ORPHA:231169
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Coarctation of aor... ORPHA:284169
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Abnormal lower motor neuron morphology, Paralysis OMIM:105500
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Patent ductus arteriosus,... ORPHA:1330
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Apert Syndrome
Conductive hearing impairment, Respiratory insufficiency, Sensorineural hearing impairment, Optic... ORPHA:87
Developmental And Epileptic Encephalopathy 49
Macrotia, Myoclonus, Optic atrophy, Hydrocephalus, Dandy-Walker malformation, Spasticity OMIM:617281
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Spastic paraparesis, Peripheral demyelination, Peripheral h... OMIM:609136
Branchiootic Syndrome
Conductive hearing impairment, Branchial fistula, Atresia of the external auditory canal, Morphol... ORPHA:52429
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal cranial nerve morphology, Respiratory distress, Na... ORPHA:990
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Atrial septal defect, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect,... ORPHA:477817
Crouzon Disease
Narrow internal auditory canal, Conductive hearing impairment, Cerebellar hypoplasia, Respiratory... ORPHA:207
Mohr-Tranebjaerg Syndrome
Tremor, Apraxia, Vestibular dysfunction, Abnormal pyramidal sign, Ankle clonus, Absent brainstem ... ORPHA:52368
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Gait ataxia, Cochlear degeneration, Spinocerebellar atrophy, Head tr... ORPHA:95433
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Hypoplastic Left Heart Syndrome
Atrial septal defect, Maternal diabetes, Mitral atresia, Patent ductus arteriosus, Hypoplastic ao... ORPHA:2248
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Cryptorchidism, Interrupted aortic arch, Ventricul... OMIM:192430
Cardiomyopathy, Dilated, 1S
Coarctation of aorta, Pulmonary artery hypoplasia, Bicuspid aortic valve, Dilated cardiomyopathy,... OMIM:613426
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Noonan Syndrome
Low-set, posteriorly rotated ears, Thickened helices, Sensorineural hearing impairment, Aplasia o... ORPHA:648
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Tremor, Dyspnea, Cough, Respiratory failure requiring a... ORPHA:90117
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Glut1 Deficiency Syndrome 1
Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoathetosis, Spasticity OMIM:606777
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Peripheral axonal neuropathy, Paralysis OMIM:613710
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Paragangliomas 2
Vagal paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus jugular tumor, Glomus tympanicum ... OMIM:601650
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve OMIM:613355
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Cryptorchidism, Atrial septal defect, Truncus arte... OMIM:601186
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Respiratory distress, Posteriorly rotated ears, Low-set ears, Respiratory failure ORPHA:1832
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Spasticity, Hearing impairment, Myoclonus, Optic atrophy, Hypoplasia of the pons OMIM:617669
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia, Vestibular hypofunction ORPHA:231183
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Abnormal cranial nerve morphology, Hearing impairment, Sensorineural hearing impairment, Aplasia ... ORPHA:90024
Superficial Siderosis
Abnormal cerebellar vermis morphology, Vertigo, Cerebellar atrophy, Abnormality of the vestibuloc... ORPHA:247245
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Polycystic ovaries, Double... ORPHA:371428
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Cerebellar hypoplasia, Low-set ears, Neonatal respiratory distress, C... ORPHA:168486
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Cerebellar atrophy, Sensorineural hearing impairment, Respiratory fail... OMIM:618329
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Slowed slurred speech, Cochlear degeneration, Ataxia OMIM:172500
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Congenital hypothyroidism, Pancreatic hypoplasia, Neonatal insulin-depe... ORPHA:2255
Intermediate Nemaline Myopathy
Low-set ears, Facial palsy, Respiratory failure, Facial diplegia ORPHA:171433
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
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing impairment, Ante... OMIM:610706
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, Ao... ORPHA:2306
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Death in childhood OMIM:200900
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Absent gallbladder, Pat... ORPHA:210122
Classic Glucose Transporter Type 1 Deficiency Syndrome
Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extrapyramidal dyskinesia... ORPHA:71277
Bardet-Biedl Syndrome 2
Atrial septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Hypogonadism, Diabetes mellitus OMIM:615981
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cryptorchidism, Abnormal heart morphology, Ventricular septal defect, Patent ductus arteriosus, U... ORPHA:500159
Leigh Syndrome
Focal substantia nigra T2 hyperintensity, Ataxia, Respiratory insufficiency, Sensorineural hearin... OMIM:256000
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements, Macrotia ORPHA:397933
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Ventricular septal defect, Howell-Jolly bodies, Death in childhood, Pulmonary artery atresia, Lef... OMIM:613759
Charge Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Webbed neck, Hypothyroidism, Lym... OMIM:214800
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Dysmetria, Limb fasciculations OMIM:606183
Contractural Arachnodactyly, Congenital
Atrial septal defect, Congenital finger flexion contractures, Ventricular septal defect, Camptoda... OMIM:121050
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Interrupted aortic arch, Ventricular septal defect OMIM:616920
Schuurs-Hoeijmakers Syndrome
Cryptorchidism, Patent ductus arteriosus, Bicuspid aortic valve, Patent foramen ovale, Abnormal c... OMIM:615009
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Pulmonary artery stenosis, Patent ... OMIM:265380
Salt And Pepper Developmental Regression Syndrome
Hearing impairment, Optic atrophy, Choreoathetosis, Myoclonus OMIM:609056
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:91387
Cantu Syndrome
Pericardial effusion, Patent ductus arteriosus, Umbilical hernia, Congenital hypertrophy of left ... OMIM:239850
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Bicuspid aortic... ORPHA:402075
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect OMIM:615297
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Aortic Aneurysm, Familial Thoracic 10
Coronary artery atherosclerosis, Aortic root aneurysm, Bicuspid aortic valve, Abdominal aortic an... OMIM:617168
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Bicuspid aortic valve, Patent ... OMIM:619149
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral cryptorchidism, Pul... ORPHA:2326
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
3-Methylglutaconic Aciduria, Type Viii
Apnea, Tremor, Hypertonia, Death in infancy, Sensorineural hearing impairment, Respiratory failure OMIM:617248
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Large earlobe, Absent tragus, Overfolded helix, Conductive hearing ... ORPHA:79113
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbili... ORPHA:329224
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the brainstem, Hypertonia, Spasticity, Cerebellar hypoplasia, Death in infancy, Los... OMIM:225753
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Vertigo, Abnormality of extrapyramidal motor function, Abno... ORPHA:79279
Baraitser-Winter Syndrome 1
Cryptorchidism, Low posterior hairline, Patent ductus arteriosus, Aortic valve stenosis, Bicuspid... OMIM:243310
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Abnormal macrophage morphology, Inc... ORPHA:353
Riboflavin Transporter Deficiency
Tremor, Abnormal cranial nerve morphology, Sleep apnea, Abnormal autonomic nervous system physiol... ORPHA:97229
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Diaphragmatic paralysis, Respiratory distress, Respiratory insuff... OMIM:614399
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Aortic ... OMIM:267010
Pontocerebellar Hypoplasia, Type 7
Spastic paraplegia, Apnea, Macrotia, Oculomotor apraxia, Cerebellar hypoplasia, Myoclonus, Optic ... OMIM:614969
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Hypoparathyroidism, Parathyroid hypoplasia, Abnormal heart morphology ORPHA:2237
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Atrial septal defect, Abnormal heart morphology, Ap... ORPHA:2847
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Vocal cord paresis, Decreased number of peripheral mye... OMIM:607706
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic tortuosity, Mitral valve prolapse, Bicuspid aortic valve, Torticollis... OMIM:614816
Craniofacioskeletal Syndrome
Cryptorchidism, Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Patent ... OMIM:300712
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Paralysis OMIM:616286
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Pontocerebellar Hypoplasia, Type 1E
Respiratory failure requiring assisted ventilation, Cerebellar hypoplasia, Death in infancy, Cere... OMIM:619303
Combined Saposin Deficiency
Hyperkinetic movements, Death in infancy, Myoclonus, Babinski sign, Fasciculations, Optic atrophy OMIM:611721
Gorham-Stout Disease
Abnormality of the internal auditory canal, Pleural effusion, Arnold-Chiari type I malformation, ... ORPHA:73
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Ataxia, Hearing impairment, Myoclonus, Optic atrophy, Chor... ORPHA:391417
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Right ventricular hypertrophy, Patent ductus arteriosus OMIM:613623
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Bilateral sensorineural hearing impairment, Progressive gait ataxia, Progressive cerebellar ataxi... ORPHA:2589
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Knee flexion contracture, Skeletal muscle atroph... OMIM:603387
Wolfram-Like Syndrome
Abnormality of the pinna, Respiratory insufficiency, Progressive cerebellar ataxia, Peripheral ax... ORPHA:411590
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Chorea, Slurred speech, Abnormal nerve conduction velocity, ... ORPHA:98755
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Abnormality of the pinna, Respiratory insufficiency OMIM:228940
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Truncal ataxia, Limb dysmetria, Diffuse cerebellar... ORPHA:363710
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tor... OMIM:249670
Pulmonary Hypertension, Primary, 1
Pulmonary aterial intimal fibrosis, Pulmonary arterial medial hypertrophy, Right ventricular hype... OMIM:178600
X Small Rings
Low posterior hairline, Ventricular septal defect, Aortic root aneurysm, Mitral stenosis, Bicuspi... ORPHA:96201
Weiss-Kruszka Syndrome
Ventricular septal defect, Dextrotransposition of the great arteries, Left ventricular hypertroph... OMIM:618619
Hsd10 Disease, Infantile Type
Poor coordination, Spastic diplegia, Spastic tetraparesis, Hyperkinetic movements, Hearing impair... ORPHA:391428
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Axonal loss, Paralysis OMIM:300857
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Myoclonus, Ataxia OMIM:159800
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Nephrogenic diabetes insipidus, Atrial septal defect, Ventric... OMIM:208085
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Atrial septal defect, Monocytosis, Lymphopenia, Patent duct... OMIM:612541
Rowley-Rosenberg Syndrome
Cor pulmonale, Right ventricular hypertrophy OMIM:268500
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Infantile sensorineural hearing impairment, Respiratory distress, Ventilator dependence with inab... ORPHA:254875
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Respiratory insufficiency, Facial palsy, Res... ORPHA:370968
Hereditary Motor And Sensory Neuropathy, Type Iic
Vocal cord paresis, Intercostal muscle weakness, Sensorineural hearing impairment, Respiratory fa... OMIM:606071
Smith-Magenis Syndrome
Stereotypy, Hearing impairment, Morphological abnormality of the middle ear, Abnormality of the o... OMIM:182290
Variegate Porphyria
Paralysis OMIM:176200
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Congenital stapes ankylosis OMIM:184460
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Ventricular septal defect, Abnormal aortic morphology, Congenital diaphragmatic h... ORPHA:1166
Deafness, Congenital, And Familial Myoclonic Epilepsy
Hearing impairment, Myoclonus OMIM:220300
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Abnormality of extrapyramidal motor function, Death in infancy, Ataxia, Respiratory insufficiency... OMIM:614299
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal common car... ORPHA:449400
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Gait ataxia, Decreased amplitude of sensory action potentials, Respiratory insufficiency, Severe ... ORPHA:90103
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Mental Retardation, Autosomal Recessive 40
Bicuspid aortic valve OMIM:615599
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Calf muscle pseudohypertrophy, Right ventricular hypertr... OMIM:253700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Stiff Skin Syndrome
Camptodactyly, Elbow flexion contracture, Knee flexion contracture, Bicuspid aortic valve OMIM:184900
Classic Multiminicore Myopathy
Increased muscle lipid content, Congenital muscular dystrophy, Generalized amyotrophy, Right vent... ORPHA:324604
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment OMIM:185800
Kleefstra Syndrome
Delayed eruption of teeth, Cryptorchidism, Macroglossia, Ventricular septal defect, Bicuspid aort... ORPHA:261494
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Patent ... ORPHA:163979
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Vocal cord paresis, Basal lamina onion bulb formation,... OMIM:614895
Congenital Disorder Of Glycosylation, Type In
Respiratory insufficiency, Ataxia, Sensorineural hearing impairment, Myoclonus, Spasticity OMIM:612015
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Motor axonal neuropathy, Macrotia, Respiratory failure requiring assisted ve... ORPHA:496641
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Abnormal heart morphology, Patent ductus arteriosus, ... ORPHA:391641
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Syndromic Diarrhea
Atrial septal defect, Thrombocytosis, Abnormal heart morphology, Ventricular septal defect, Hypot... ORPHA:84064
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Pulmonic stenosi... ORPHA:3426
Phaver Syndrome
Camptodactyly of finger, Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta... ORPHA:2876
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Prominent antihelix, Truncal ataxia, Macrotia, Cerebellar hypoplasia, Intention tremor OMIM:614407
Severe X-Linked Intellectual Disability, Gustavson Type
Profound hearing impairment, Macrotia, Hypertonia, Cerebellar hypoplasia, Abnormality of the pinn... ORPHA:3078
Xq21 Microdeletion Syndrome
Dysdiadochokinesis, Gait ataxia, Stapes ankylosis, Conductive hearing impairment, Ataxia, Ankle c... ORPHA:1435
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Cryptorchidism, Macroglossia, Atrial septal defect, Branchial anomaly, Abnormal h... ORPHA:453499
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephrogenic diabetes insipidus, Arthrogryposis multiplex congenita, Right ventricular hypertrophy... OMIM:613404
Perlman Syndrome
Cryptorchidism, Interrupted aortic arch, Visceromegaly, Hypoplasia of the abdominal wall musculat... OMIM:267000
Nemaline Myopathy 8
Respiratory failure, Facial palsy, Death in infancy OMIM:615348
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neonatal death, Heari... OMIM:245400
Retinitis Pigmentosa 89
Hepatosplenomegaly, Bicuspid aortic valve OMIM:618955
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2549
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect OMIM:614261
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Hypertonia, Central apnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:611722
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Sensorineural hearing impairment, Myoclonus, Ataxia, Spasticity OMIM:545000
Microtriplication 11Q24.1
Speech apraxia, Hyperkinetic movements, Retrocerebellar cyst, Attached earlobe, Posteriorly rotat... ORPHA:289522
Muscular Dystrophy, Congenital, 1B
Facial palsy, Respiratory failure OMIM:604801
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect, Webbed neck, Abnormal aortic morphology, Short neck ORPHA:2516
Grange Syndrome
Patent ductus arteriosus, Arterial stenosis, Ventricular septal defect ORPHA:79094
Charge Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal cranial nerve morphology, Hypoplasia of the semici... ORPHA:138
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Abnormal cardiac septum morphology, Patent ductus arteriosus, Interrupted aortic ... ORPHA:250989
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Overfolded helix, Low-set ears, Posteriorly rotated ears, Respirat... ORPHA:2759
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Brown-Vialetto-Van Laere Syndrome 1
Clumsiness, Stridor, Respiratory distress, Dyspnea, Knee clonus, Ataxia, Ankle clonus, Respirator... OMIM:211530
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Madras Motor Neuron Disease
Abnormal cerebellum morphology, Facial palsy, Sensorineural hearing impairment, Babinski sign, Ti... ORPHA:137867
Grange Syndrome
Carotid artery stenosis, Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve OMIM:602531
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Respiratory distress, Decreased nerve conduction ... ORPHA:206436
Distal Monosomy 15Q
Cystic hygroma, Cryptorchidism, Double outlet right ventricle with doubly committed ventricular s... ORPHA:1596
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Cystic hygroma, Abnormal heart morphology, Patent ductus arteriosus, ... OMIM:618164
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Adrenal insufficiency, Ventricular septal defect ORPHA:251076
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Bicuspid aortic valve OMIM:616201
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Branchial cyst, Branchial fistula, Atresia of the externa... OMIM:609166
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Loeys-Dietz Syndrome 2
Generalized arterial tortuosity, Camptodactyly, Patent ductus arteriosus, Dilatation of mesenteri... OMIM:610168
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Hearing impairment, Cerebellar at... ORPHA:139485
Noonan Syndrome 9
Cryptorchidism, Ventricular septal defect, Webbed neck, Pulmonic stenosis, Coarctation of aorta, ... OMIM:616559
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Sensorineural hearing impairment OMIM:603641
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Respiratory failure, Communicating hydrocephalus, Ataxia ORPHA:1861
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Myoclo... OMIM:616505
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Giant somatosensory evoked potentials, Cerebellar atrophy, ... OMIM:618876
Apert Syndrome
Delayed eruption of teeth, Ventricular septal defect, Cryptorchidism, Overriding aorta OMIM:101200
Koolen-De Vries Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aortic... OMIM:610443
Congenital Myasthenic Syndrome
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, At... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, At... ORPHA:98914
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Arterial tortuosity, Atrial septal defect, Camptodactyly, Pat... OMIM:609192
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Aortic valve stenosis, Tricuspid valve prola... ORPHA:2396
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased intramyocellular lipid droplets, Interrupted aortic arch, Increased variability in musc... ORPHA:17
Methimazole Embryofetopathy
Ventricular septal defect, Hypothyroidism, Abnormal aortic morphology, Abnormality of the thyroid... ORPHA:1923
Brown-Vialetto-Van Laere Syndrome 2
Clumsiness, Ataxia, Respiratory insufficiency, Sensorineural hearing impairment, Facial palsy, To... OMIM:614707
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Hypertonia, Low-set ears, Exaggerated startle response, Respiratory failure, Clonus, Optic... OMIM:617301
Lateral Meningocele Syndrome
Cryptorchidism, Patent ductus arteriosus, Umbilical hernia, Meningocele, Bicuspid aortic valve, S... OMIM:130720
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Leigh Syndrome
Abnormality of extrapyramidal motor function, Spastic diplegia, Sensorineural hearing impairment,... ORPHA:506
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory distress, Chorea, Hypertonia, Central hypoventilation, Ataxia, Hearing impairm... ORPHA:70474
Cardiac Valvular Dysplasia, X-Linked
Mitral valve prolapse, Short chordae tendineae of the mitral valve, Short chordae tendineae of th... OMIM:314400
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Conductive hearing impairment, Respiratory insufficiency, A... ORPHA:93262
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Macrotia, Upper limb spasticity, Hyperkinetic movements, Cerebellar dysplasia, Stereotypy ORPHA:457240
Severe Congenital Nemaline Myopathy
Low-set ears, Facial palsy, Respiratory failure, Facial diplegia ORPHA:171430
Tetrasomy 5P
Wide anterior fontanel, Respiratory distress, Cerebellar hypoplasia, Low-set ears, Posteriorly ro... ORPHA:3309
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Tetraparesis, Hemiparesis, Ankle clonus, Respiratory failure, Tongue fasciculations OMIM:600561
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Aortopulm... OMIM:208530
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Right ventricular hypertrophy, Left ventricular hypert... ORPHA:335
Narp Syndrome
Progressive gait ataxia, Ataxia, Hearing impairment, Babinski sign, Myoclonic spasms, Optic disc ... ORPHA:644
Saethre-Chotzen Syndrome
Abnormality of the antihelix, Sleep apnea, Narrow internal auditory canal, Conductive hearing imp... ORPHA:794
Diamond-Blackfan Anemia 11
Neutropenia, Bicuspid aortic valve, Anemia, Anemia of inadequate production, Bone marrow hypocell... OMIM:614900
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Anemia, Abnormal tricuspid valve morphology ORPHA:3405
Combined Oxidative Phosphorylation Deficiency 14
Death in infancy, Hearing impairment, Cerebellar atrophy, Myoclonus, Atrophy/Degeneration affecti... OMIM:614946
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Secondary hyperparathyroidism ORPHA:140286
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Fasciculations, Hearing impairment, Hypertonia, Abnormal pyramidal sign OMIM:616688
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Overriding aort... OMIM:309801
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Hypoplasia of the thymus, Conotruncal defect ORPHA:40366
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Cerebellar hypoplasia, Head titubation, Absent brainstem auditory responses... ORPHA:3240
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Diffuse cerebellar atrophy, Abnormality of extrapyramidal motor function, Abnormal py... ORPHA:352596
Pontocerebellar Hypoplasia, Type 1D
Respiratory insufficiency, Low-set ears, Cerebellar atrophy, Fasciculations, Spasticity OMIM:618065
Acrocraniofacial Dysostosis
Abnormality of the incus, Abnormality of the middle ear ossicles, Abnormality of the malleus, Con... ORPHA:949
Fetal Minoxidil Syndrome
Cryptorchidism, Umbilical hernia, Ventricular septal defect ORPHA:1918
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Peripheral axonal neuropathy, Myoclonus, Babinski sign, Fasciculatio... OMIM:607317
Left Ventricular Noncompaction 1
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... OMIM:604169
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Low posterior hairline, Webbed neck, Bicuspid aortic valve, Congenital diap... OMIM:245600
Diabetic Embryopathy
Cryptorchidism, Ventricular septal defect, Abnormal aortic morphology, Spinal dysraphism, Abnorma... ORPHA:1926
Squalene Synthase Deficiency
Elbow flexion contracture, Bilateral cryptorchidism, Knee flexion contracture, Bicuspid aortic valve OMIM:618156
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Respiratory failure, Respiratory insufficiency OMIM:253300
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Contracture of the proximal interphalangeal joint of the 4th toe, Atrial septal defect, Ventricul... ORPHA:457279
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Aortic aneurysm, Congenital diaphragmatic hernia ORPHA:261102
Craniometaphyseal Dysplasia
Conductive hearing impairment, Abnormal cranial nerve morphology, Sensorineural hearing impairmen... ORPHA:1522
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hepatomegaly, Thromboc... ORPHA:290
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal hea... ORPHA:401935
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... ORPHA:3236
Lateral Meningocele Syndrome
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2789
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Hyperkinetic movements, Respiratory insufficiency due to muscle weakness, Sensorineural hearing i... OMIM:612073
Pontocerebellar Hypoplasia, Type 2E
Hypertonia, Opisthotonus, Cerebellar atrophy, Spastic tetraplegia, Myoclonus, Facial telangiectas... OMIM:615851
Frontotemporal Dementia With Motor Neuron Disease
Apraxia, Abnormality of extrapyramidal motor function, Paraparesis, Tetraparesis, Abnormal lower ... ORPHA:275872
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Decreased size of nerve terminals, Exertional dyspnea, Orthopnea,... ORPHA:98913
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Short neck, Type II diabetes mellitus, Bicuspid aortic valve ORPHA:401923
Mitochondrial Complex I Deficiency, Nuclear Type 31
Sensorineural hearing impairment, Death in childhood, Myoclonus, Dysmetria OMIM:618251
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Pontocerebellar Hypoplasia, Type 1A
Cerebellar hypoplasia, Degeneration of anterior horn cells, Ataxia, Respiratory insufficiency, Fa... OMIM:607596
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Spina bifida occulta, Bicuspid aortic valve OMIM:300707
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Primary Angiitis Of The Central Nervous System
Paraparesis, Tetraparesis, Hemiparesis, Paralysis, Ataxia, Pseudopapilledema, Parkinsonism ORPHA:140989
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ata... OMIM:618598
Distal Renal Tubular Acidosis
Respiratory insufficiency due to muscle weakness, Sensorineural hearing impairment, Paralysis, En... ORPHA:18
Phace Association
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Vascular dilatation, Cong... OMIM:606519
Developmental And Epileptic Encephalopathy 37
Rigidity, Hyperkinetic movements, Cerebellar atrophy, Myoclonus, Choreoathetosis, Spasticity OMIM:616981
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Overfolded helix, Hypertonia, Ataxia, Low-set ears, Myoclonus, Stereotypy, L... OMIM:619092
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Optic atrophy, Spastic tetraplegia, Respiratory insufficiency OMIM:615330
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmon... OMIM:610759
Li-Campeau Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Hypothyroidism, Patent ductus ar... OMIM:619189
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland ORPHA:2762
Benign Schwannoma
Abnormal cranial nerve morphology, Vertigo, Abnormality of peripheral nervous system electrophysi... ORPHA:252164
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, Branchial anomaly, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenos... ORPHA:1131
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Degeneration of anterior horn cells, Respiratory insufficiency due to muscle weakness, To... OMIM:159950
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Erythema... ORPHA:99
Robinow Syndrome, Autosomal Recessive 2
Camptodactyly, Bicuspid aortic valve OMIM:618529
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Spinocerebellar Ataxia Type 36
Vertigo, Truncal ataxia, Head tremor, Limb ataxia, Ataxia, Tongue fasciculations, Hearing impairm... ORPHA:276198
Adams-Oliver Syndrome 5
Umbilical hernia, Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy, Hyp... OMIM:616028
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Paralysis, Respiratory paralysis ORPHA:681
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Paroxysmal Non-Kinesigenic Dyskinesia
Choreoathetosis, Dyspnea, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Inv... ORPHA:98810
Spinocerebellar Ataxia Type 13
Gait ataxia, Clumsiness, Limb ataxia, Bradykinesia, Hearing impairment, Torticollis, Cerebellar a... ORPHA:98768
Fibrodysplasia Ossificans Progressiva
Conductive hearing impairment, Sensorineural hearing impairment, Respiratory failure, Respiratory... OMIM:135100
Transaldolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hepatomegaly, Pancytop... OMIM:606003
Intellectual Developmental Disorder, X-Linked 12
Tremor, Cerebellar vermis hypoplasia, Hyperkinetic movements, Abnormal cerebellum morphology, Sen... OMIM:300957
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus art... OMIM:179613
Neutral Lipid Storage Disease With Myopathy
Fasciculations, Sensorineural hearing impairment OMIM:610717
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent duc... OMIM:618316
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Thrombocytopenia, Anemia, Coarctation of aorta, ... ORPHA:101028
Waardenburg Syndrome Type 3
Acrocyanosis, Spastic paraplegia, Tracheomalacia, Atelectasis, Hearing impairment ORPHA:896
Adams-Oliver Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Hypopl... OMIM:100300
Peroxisomal Acyl-Coa Oxidase Deficiency
Hypertonia, Death in infancy, Respiratory insufficiency, Low-set ears, Sensorineural hearing impa... ORPHA:2971
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Cryptorchidism, Type 1 muscle fiber atrophy, Atrial septal defect, Macroglossia, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Cryptorchidism, Type 1 muscle fiber atrophy, Atrial septal defect, Macroglossia, ... ORPHA:352665
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Ceroid Lipofuscinosis, Neuronal, 3
Abnormality of extrapyramidal motor function, Abnormal cerebellum morphology, Parkinsonism, Myocl... OMIM:204200
Bronchopulmonary Dysplasia
Right ventricular hypertrophy ORPHA:70589
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Adrenal hypoplasia, Ventricular septal defect, Pulmonic stenosis, Aortic va... OMIM:220210
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Tetralogy of Fallot, Overriding aorta ORPHA:3186
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Sandestig-Stefanova Syndrome
Low-set ears, Underdeveloped tragus, Respiratory failure, Angulated antihelix OMIM:618804
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis OMIM:126320
Mitochondrial Complex I Deficiency, Nuclear Type 1
Ataxia, Respiratory insufficiency, Cerebellar atrophy, Sensorineural hearing impairment, Respirat... OMIM:252010
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Hypoxemia, Low-set ears, Neonatal r... ORPHA:2257
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Perimembranou... ORPHA:508498
Congenital Aortic Valve Stenosis
Aortic valve atresia, Endocarditis, Endocardial fibroelastosis, Thoracic aortic aneurysm, Aortic ... ORPHA:3093
Hyperekplexia 4
Hypertonia, Respiratory failure, Myoclonus, Umbilical hernia OMIM:618011
Timothy Syndrome
Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Cardiomegaly, Patent foramen... OMIM:601005
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Meacham Syndrome
Cryptorchidism, Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, ... ORPHA:3097
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Conductive hearing impairment, Recurrent otitis media, Chronic otitis m... ORPHA:244
Gm2-Gangliosidosis, Ab Variant
Chorea, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Exaggerated startle... OMIM:272750
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Decreased nerve conduction velocity, Hypertonia, Ataxia, Respiratory insuffic... OMIM:618356
Fryns Syndrome
Thickened nuchal skin fold, Cryptorchidism, Abnormal aortic arch morphology, Abnormal aortic morp... ORPHA:2059
Tarp Syndrome
Prominent antihelix, Small earlobe, Abnormality of the antihelix, Apnea, Low-set, posteriorly rot... ORPHA:2886
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Truncus arteriosus, Ventricular septal defect OMIM:601355
Gastrointestinal Defects And Immunodeficiency Syndrome
Hypoplasia of the thymus, Autoimmune hemolytic anemia, Ventricular septal defect OMIM:243150
Noonan Syndrome 8
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Webbed neck, Patent ductus arter... OMIM:615355
Neuronopathy, Distal Hereditary Motor, Type Iid
Fasciculations, Decreased motor nerve conduction velocity OMIM:615575
Mental Retardation, Autosomal Dominant 21
Cryptorchidism, Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Camptodactyly, Patent ductus arteriosus, Thoracic aortic aneurysm, Mitra... OMIM:613795
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydrocele testis, Atrial septal defect, Flexion contracture of toe, Patent ductus arteriosus, Per... ORPHA:280633
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Low-set ears, Hearing impairment, Cerebellar atrophy, Babinski sign, F... OMIM:618186
Combined Oxidative Phosphorylation Defect Type 23
Right ventricular hypertrophy, Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:444013
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Respiratory insufficiency, Hearing impairment, Optic atrophy, Hydrocephalus, Mi... ORPHA:1914
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm OMIM:604308
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Increased circulating gonadotropin level, Webbed neck, Coarctation of aorta, Hypo... ORPHA:1772
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Deafness-Lymphedema-Leukemia Syndrome
Vertigo, Chronic otitis media, Sensorineural hearing impairment, Respiratory failure, Bruising su... ORPHA:3226
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Bilateral cryptorchidi... OMIM:618652
Episodic Ataxia Type 7
Episodic ataxia, Vertigo, Tinnitus, Hyperkinetic movements ORPHA:209970
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Low-set ears, Respiratory failure, Death in infancy ORPHA:1194
Distal Tetrasomy 15Q
Hydrocele testis, Atrial septal defect, Abnormal heart morphology, Camptodactyly, Flexion contrac... ORPHA:314588
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresi... OMIM:612946
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Tongue fasciculations, Tremor, Abnormal sensory nerve conduction velocity ORPHA:276435
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Diaphragmatic paralysis, Ventilator dependence with inability to wean, Inspiratory stridor, Degen... OMIM:604320
Spinocerebellar Ataxia 36
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Hypertonia, Ataxia, Hearing impairment,... OMIM:614153
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Death in infancy, Ventricular septal defect OMIM:614876
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Myoclonus, Stereotypy, Prominent ear helix, Large earlobe, Hypoplasia of the pons ORPHA:411986
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection OMIM:616166
Fryns Microphthalmia Syndrome
Neural tube defect, Abnormality of the ear, Macrotia OMIM:600776
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Patent ductus arteriosus, Sideroblastic anemia, Ventricular septal defect OMIM:617021
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Bicuspid aortic valve OMIM:616367
Schinzel-Giedion Syndrome
Infantile sensorineural hearing impairment, Aganglionic megacolon, Abnormality of the stapes, Abn... ORPHA:798
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Fasciculations, Tremor, Degeneration of anterior horn... ORPHA:65684
Spinocerebellar Ataxia Type 3
Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Progressive ce... ORPHA:98757
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Dyspnea, Cardiorespiratory arrest, Wide anterior fontanel, Abnorm... ORPHA:26791
Monosomy 18Q
Left aortic arch with right descending aorta and right ductus arteriosus, Secundum atrial septal ... ORPHA:1600
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Delaye... OMIM:300967
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Hand tremor, Poor fine motor coordination, Sensory axonal neuropathy, Vocal cord... ORPHA:99947
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Chorea, Ataxia, Myoclonus, Involuntary movements, Optic atrophy, Spasticity OMIM:617282
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, ... OMIM:619313
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Tremor, Central sleep apnea, Clumsiness, Abnormality of ext... ORPHA:79262
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Left superior vena cava draining to coronary sinus, D... ORPHA:185
Mmep Syndrome
Cryptorchidism, Ventricular septal defect ORPHA:3434
Cleft Palate, Cardiac Defects, And Mental Retardation
Ventricular septal defect, Atrial septal defect, Coarctation of aorta OMIM:600987
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cryptorchidism, Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Dea... OMIM:600460
Frontometaphyseal Dysplasia 2
Cryptorchidism, Decreased muscle mass, Webbed neck, Camptodactyly, Patent ductus arteriosus, Pulm... OMIM:617137
Developmental And Epileptic Encephalopathy 16
Myoclonus, Optic atrophy, Hemiparesis, Abnormality of extrapyramidal motor function OMIM:615338
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Short neck, Patent ductus arteriosus, Hypoplastic left heart ORPHA:2001
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Unilateral Polymicrogyria
Pseudobulbar paralysis, Apnea, Infantile sensorineural hearing impairment, Poor fine motor coordi... ORPHA:268943
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis ORPHA:230800
Mucopolysaccharidosis Type 3
Thickened helices, Abnormality of the middle ear ossicles, Vocal cord paresis, Hydrocephalus, Con... ORPHA:581
Proteus-Like Syndrome
Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly, Thymus hyperplasia, Venou... ORPHA:2969
Joubert Syndrome 1
Hypoplasia of the brainstem, Brainstem dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxi... OMIM:213300
Juvenile Sialidosis Type 2
Ataxia, Umbilical hernia, Low-set ears, Lower limb spasticity, Hearing impairment, Myoclonus, Dys... ORPHA:93399
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Fontaine Progeroid Syndrome
Cryptorchidism, Atrial septal defect, Absent nipple, Abnormal heart morphology, Patent ductus art... OMIM:612289
Familial Parathyroid Adenoma
Parathyroid hyperplasia, Parathyroid carcinoma, Mitral valve calcification, Left ventricular hype... ORPHA:99877
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Hypergonadotropic hypogonadism, Patent ductus arteriosus, Death in inf... OMIM:300514
Ritscher-Schinzel Syndrome 2
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus art... OMIM:300963
Peho-Like Syndrome
Cerebellar atrophy, Optic atrophy, Myoclonus OMIM:617507
Omenn Syndrome
Severe B lymphocytopenia, Hypoplasia of the thymus, Hepatomegaly, Thrombocytopenia, Eosinophilia,... OMIM:603554
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Abnormal heart morphology, Camptodactyly, Hypoplasia of the thymus, Hepatomegaly,... OMIM:214110
Hyperekplexia 3
Hypertonia, Exaggerated startle response OMIM:614618
Koolen-De Vries Syndrome
Cryptorchidism, Abnormal cardiac septum morphology, Hypothyroidism, Bicuspid aortic valve ORPHA:96169
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Leukodystrophy, Hypomyelinating, 10
Hyperkinetic movements, Low-set ears, Hearing impairment, Babinski sign, Spasticity OMIM:616420
Baker-Gordon Syndrome
Sleep apnea, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, Choreoathetosis OMIM:618218
22Q11.2 Deletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Short neck, Abnormality of the tonsils, Truncus arterio... ORPHA:567
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cryptorchidism, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Natal... ORPHA:353281
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Idiopathic Pulmonary Arterial Hypertension
Abnormal jugular vein morphology, Right ventricular hypertrophy ORPHA:275766
Noonan Syndrome 10
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Webbed neck, Patent ductus arter... OMIM:616564
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Noonan Syndrome 12
Ventricular septal defect, Lymphopenia, Thrombocytopenia, Tetralogy of Fallot, Decreased response... OMIM:618624
Koolen-De Vries Syndrome Due To A Point Mutation
Cryptorchidism, Spina bifida, Atrial septal defect, Abnormal heart morphology, Ventricular septal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cryptorchidism, Spina bifida, Atrial septal defect, Abnormal heart morphology, Ventricular septal... ORPHA:363958
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Acquired Methemoglobinemia
Vertigo, Dyspnea, Respiratory distress, Hypoxemia, Cyanosis ORPHA:464453
Sialidosis Type 1
Tremor, Vascular skin abnormality, Slurred speech, Ataxia, Sensorineural hearing impairment, Myoc... ORPHA:812
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure, Ataxia OMIM:618637
Congenital Sialidosis Type 2
Hydrocephalus, Ataxia, Umbilical hernia, Low-set ears, Hearing impairment, Petechiae, Myoclonus, ... ORPHA:93400
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Respiratory failure, Respiratory distress OMIM:617895
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Abnormal aort... ORPHA:392
Williams Syndrome
Cryptorchidism, Abnormal carotid artery morphology, Abnormal endocardium morphology, Patent ductu... ORPHA:904
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Central hypoventilation, Ataxia, Respiratory failure, Dysmetria, Optic atrophy OMIM:618233
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Facial hypotonia, Hypoplastic aortic arch, Atrial septal d... ORPHA:261311
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Enhancement of the C-reflex, Myoclonus OMIM:615127
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Multiple Synostoses Syndrome 1
Stapes ankylosis, Progressive conductive hearing impairment OMIM:186500
Brain-Lung-Thyroid Syndrome