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 |
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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 |
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Large earlobe, Prominent ear helix, Motor stereotypy, Myoclonus, Hypoplasia of the pons |
ORPHA:411986 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
Schinzel-Giedion Syndrome |
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Large earlobe, Low-set ears, Abnormal helix morphology, Infantile sensorineural hearing impairmen... |
ORPHA:798 |
Hadziselimovic Syndrome |
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Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... |
OMIM:612946 |
Ceroid Lipofuscinosis, Neuronal, 3 |
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Abnormal cerebellum morphology, Myoclonus, Parkinsonism, Optic atrophy, Abnormality of extrapyram... |
OMIM:204200 |
Hereditary Methemoglobinemia |
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Hypertonia, Cyanosis, Athetosis, Spasticity, Cerebellar atrophy, Spastic tetraplegia, Exertional ... |
ORPHA:621 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Lymphopenia, Leukocytosis, Death in childhood, Hypoplasia of the thymus, Ventricular septal defec... |
OMIM:243150 |
Noonan Syndrome 12 |
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Lymphopenia, Decreased response to growth hormone stimulation test, Tetralogy of Fallot, Ventricu... |
OMIM:618624 |
Aortic Aneurysm, Familial Thoracic 9 |
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Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm |
OMIM:616166 |
Seizures, Benign Familial Infantile, 3 |
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Apnea, Cyanosis |
OMIM:607745 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
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Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
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Ventricular septal defect, Hepatomegaly, Death in infancy |
OMIM:614876 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
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Tremor, Tongue fasciculations, Fasciculations, Abnormal sensory nerve conduction velocity |
ORPHA:276435 |
Cyanosis And Hepatic Disease |
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Dyspnea, Cyanosis |
OMIM:219400 |
Seizures, Benign Familial Infantile, 1 |
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Apnea, Cyanosis |
OMIM:601764 |
Aortic Aneurysm, Familial Thoracic 8 |
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Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
22Q11.2 Deletion Syndrome |
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Tricuspid atresia, Cholelithiasis, Short neck, Ventricular septal defect, Abnormality of the tons... |
ORPHA:567 |
Venular Insufficiency, Systemic |
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Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
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Cyanosis |
OMIM:185460 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Respiratory distress, Low-set ears, Respiratory failure |
OMIM:617895 |
Episodic Ataxia Type 7 |
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Tinnitus, Vertigo, Hyperkinetic movements, Episodic ataxia |
ORPHA:209970 |
Juvenile Sialidosis Type 2 |
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Low-set ears, Ataxia, Dysmetria, Myoclonus, Optic atrophy, Spasticity, Umbilical hernia, Hearing ... |
ORPHA:93399 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
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Short neck, Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart |
ORPHA:2001 |
15Q11.2 Microdeletion Syndrome |
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Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
Methemoglobinemia, Beta Type |
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Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Cyanosis |
OMIM:617973 |
Omenn Syndrome |
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Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Unilateral Polymicrogyria |
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Apnea, Pseudobulbar paralysis, Infantile sensorineural hearing impairment, Poor fine motor coordi... |
ORPHA:268943 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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