| 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 |
|
