Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Postlingual sensorineural hearing impairment, Abnormality of the vestibulocochlear nerve... |
OMIM:601369 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Pendred Syndrome |
|
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... |
ORPHA:705 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud... |
OMIM:113650 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
Tick-Borne Encephalitis |
|
Speech apraxia, Incoordination, Abnormal medulla oblongata morphology, Facial palsy, Hearing impa... |
ORPHA:297 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the... |
OMIM:602588 |
Worster-Drought Syndrome |
|
Sensorineural hearing impairment, Abnormal cranial nerve morphology |
ORPHA:3465 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... |
OMIM:132900 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Warsaw Breakage Syndrome |
|
Cutis marmorata, Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, Hearing impairment |
OMIM:613398 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Spastic tetraplegia, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Schwannomatosis 1 |
|
Vestibular schwannoma, Peripheral schwannoma |
OMIM:162091 |
Glossopharyngeal Neuralgia |
|
Ear pain, Cranial nerve compression, Schwannoma, Chiari type I malformation, Abnormal glossophary... |
ORPHA:221098 |
Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Dilated vestibule of the inn... |
OMIM:611584 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Bilateral Polymicrogyria |
|
Cerebellar atrophy, Sensorineural hearing impairment, Aplasia/Hypoplasia of the brainstem, Facial... |
ORPHA:268940 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Myelopathy, Cranial nerve compression, Vertigo, Abnormal... |
ORPHA:268882 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
7Q31 Microdeletion Syndrome |
|
Speech apraxia, Torticollis, Hypoplasia of the cochlea, Asthma, Hypoplasia of the semicircular ca... |
ORPHA:251061 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t... |
OMIM:601927 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Right aortic arch, Hypothyroidism, Goiter |
OMIM:617577 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Pontocerebellar Hypoplasia, Type 1C |
|
Cerebellar vermis hypoplasia, Spastic tetraparesis, Respiratory insufficiency, Respiratory failur... |
OMIM:616081 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Rigidity, Optic atrophy, Respiratory failure, Myoclonus, Aspiratio... |
OMIM:619057 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Axonal loss, Paralysis, Dystonia |
OMIM:300857 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon... |
OMIM:618845 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Diaphragmatic eventration, Neonatal ... |
OMIM:608978 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aor... |
OMIM:617478 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Ataxia, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Low-... |
OMIM:610127 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defe... |
ORPHA:3304 |
Digeorge Syndrome |
|
Ventricular septal defect, Parathyroid agenesis, Decreased circulating parathyroid hormone level,... |
OMIM:188400 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Vestibular schwannoma |
OMIM:613641 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Patent du... |
ORPHA:1120 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, High-frequency sensorineural hearing impairment, Tremor, ... |
ORPHA:2590 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Respiratory insufficiency d... |
OMIM:611890 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paralysis |
OMIM:608634 |
Usher Syndrome Type 1 |
|
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, A... |
ORPHA:231169 |
Distal Deletion 10Q |
|
Ataxia, Clonus, Congenital sensorineural hearing impairment, Spina bifida occulta, Cochlear malfo... |
ORPHA:96148 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
OMIM:300845 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... |
OMIM:605285 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Apert Syndrome |
|
Sensorineural hearing impairment, Hydrocephalus, Optic atrophy, Abnormal semicircular canal morph... |
ORPHA:87 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Short neck, M... |
OMIM:617022 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... |
ORPHA:2248 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis, Segmental peripher... |
OMIM:162500 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Interrupted aortic arch, Pulmonary... |
OMIM:192430 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Tremor, Sensorineural hearing ... |
ORPHA:52368 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, ... |
ORPHA:52429 |
Otofaciocervical Syndrome 1 |
|
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea |
OMIM:166780 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... |
OMIM:214800 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Sensorineural hearing impairment, Ankle clonus, Fasciculations, Low-set ears, Spasticity |
OMIM:620323 |
Crouzon Syndrome |
|
Hydrocephalus, Optic atrophy, Respiratory insufficiency, Chiari malformation, Cerebellar hypoplas... |
ORPHA:207 |
Noonan Syndrome |
|
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... |
ORPHA:648 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia |
ORPHA:231183 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Optic atrophy, Gait ataxia, Spastic dysarthria, Progressive cerebell... |
ORPHA:95433 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration |
ORPHA:3233 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Abnormal peripheral action potential amplitude, Limb fasciculations, Abnormality of the s... |
ORPHA:90117 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Respiratory distress, Abnormal cranial nerve morphology, Holop... |
ORPHA:990 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Neonatal death, At... |
OMIM:265380 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... |
OMIM:601650 |
Superficial Siderosis |
|
Cerebellar atrophy, Vertigo, Abnormality of the vestibulocochlear nerve, Abnormality of the brach... |
ORPHA:247245 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Parkinsonism, Paralysis |
OMIM:105500 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic dissection, Bicuspid aor... |
OMIM:619825 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arterio... |
OMIM:601186 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, C... |
OMIM:600001 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Ataxia, Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
Intermediate Nemaline Myopathy |
|
Facial diplegia, Respiratory failure, Facial palsy, Low-set ears |
ORPHA:171433 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Peripheral axonal neuropathy, Paralysis |
OMIM:613710 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hernia, Aplasia/Hypoplasia... |
ORPHA:2255 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Optic atrophy, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive... |
OMIM:605259 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Posteriorly rotated ears, Dyspnea, Respiratory failure, Low-set ears |
ORPHA:1832 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... |
OMIM:609136 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Apnea, Respiratory failure, Atrophy/Degeneration affecting the brainstem, Spast... |
OMIM:616277 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Babinski sign, Respiratory insuffi... |
OMIM:618186 |
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 With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Sensorineural hearing impairment, Abnormal cranial nerve morphology, Aplasia of the inner ear, Mi... |
ORPHA:90024 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Descendi... |
ORPHA:91387 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus, Death in childhood |
OMIM:200900 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve prolapse, Coa... |
ORPHA:371428 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductu... |
ORPHA:500159 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased number of pe... |
OMIM:607706 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Interrupted aortic arch, Limb hypertonia |
OMIM:616920 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Hypogonadism, Atrial septal defect |
OMIM:615981 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Neonatal respiratory distress, Apnea, Aplasia/Hypoplasia of the external ear,... |
ORPHA:168486 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis |
OMIM:612740 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... |
ORPHA:1354 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Ventricular septal defect, Left superior vena cava draining directly to the ... |
OMIM:613759 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Leigh Syndrome |
|
Ataxia, Sensorineural hearing impairment, Optic atrophy, Respiratory insufficiency, Respiratory f... |
OMIM:256000 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Short neck, Patent ductus arte... |
OMIM:121050 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... |
ORPHA:2306 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Abnormal cardiac septum morpholo... |
OMIM:615009 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... |
ORPHA:210122 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Stroke, Ischemic stroke, Lymphopenia |
OMIM:182410 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard... |
OMIM:618280 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Optic atrophy, Myoclonus, Hearing impairment |
OMIM:609056 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Macrotia, Hyperkinetic movements |
ORPHA:397933 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Peripheral axonal neuropathy, Respiratory insufficiency, Respira... |
OMIM:611722 |
Mullegama-Klein-Martinez Syndrome |
|
Facial palsy, Sensorineural hearing impairment, Absent stapes, Microtia, Atresia of the external ... |
OMIM:301022 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery from the pulmonary artery... |
ORPHA:2326 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Microtia, Atresia ... |
ORPHA:79113 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Abnormal macrophage morphology, Calf muscle pseudohypertrophy, Achilles tendon ... |
ORPHA:353 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Short neck, Patent ductus arteriosus, ... |
OMIM:239850 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Atria... |
ORPHA:329224 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Pontocerebellar Hypoplasia, Type 1E |
|
Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Death in infancy, Hypopla... |
OMIM:619303 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
Combined Saposin Deficiency |
|
Death in infancy, Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasciculations |
OMIM:611721 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Parathyroid hypoplasia, Abnormal heart morphology |
ORPHA:2237 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, ... |
OMIM:620158 |
Lethal Congenital Contracture Syndrome 7 |
|
Facial diplegia, Paralysis |
OMIM:616286 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... |
OMIM:620067 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... |
ORPHA:402075 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Hypopl... |
OMIM:225753 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Hepatosplenomegaly, Bile duct... |
OMIM:267010 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Diaphragmatic paral... |
OMIM:614399 |
Gorham-Stout Disease |
|
Torticollis, Rhinorrhea, Chiari type I malformation, Pleural effusion, Abnormality of the interna... |
ORPHA:73 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia of the skin, Hemiplegia/hemiparesis, Vertigo, Optic atrophy, Abnormal pyramidal si... |
ORPHA:79279 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Tremor, Respiratory insufficiency, Progressive hearing i... |
ORPHA:97229 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Bilateral sensorineural hearing impairmen... |
ORPHA:2589 |
Pontocerebellar Hypoplasia Type 1 |
|
Peripheral axonal neuropathy, Ataxia, Hypoplasia of the pons, Optic atrophy, Congenital laryngeal... |
ORPHA:2254 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Interrup... |
OMIM:300712 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... |
ORPHA:2847 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular... |
OMIM:614816 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Short neck, Cryptorchidism, Patent ductus arteriosus, Low posterior hairli... |
OMIM:243310 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Choreoathetos... |
ORPHA:391428 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... |
OMIM:253700 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Myoclonus, Spastic paraparesis, Hearing... |
ORPHA:391417 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... |
ORPHA:229 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... |
OMIM:616652 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Postural tremor, Chorea, Loss of Purkinje cells in the cerebellar vermis, Opt... |
ORPHA:98755 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
Benign Schwannoma |
|
Facial palsy, Hearing abnormality, Schwannoma, Vertigo, Peripheral schwannoma, Abnormality of the... |
ORPHA:252164 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Trunc... |
ORPHA:363710 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus, Hearing impairment |
OMIM:159800 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Arterial intimal fibros... |
OMIM:178600 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Cerebellar vermis hypoplasia, Facial palsy, Poor gross motor coordination, Respiratory insufficie... |
ORPHA:370968 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, Mitral ... |
ORPHA:324604 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Babinski sign, Abnormal pyrami... |
OMIM:616688 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis |
OMIM:184460 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Conductive hearing impairment, Hyperkinetic movements, Choreoathetosis, Myoclonus |
OMIM:618497 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Short neck, Cryptorchidi... |
OMIM:130720 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios... |
OMIM:164280 |
Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Optic atrophy, Gait atax... |
OMIM:620089 |
Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Vocal cord paralysis, Peripheral hypomyelination |
OMIM:616287 |
Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic ... |
OMIM:617302 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Vascular ring, Atri... |
OMIM:603387 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct... |
ORPHA:980 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a... |
ORPHA:449400 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic ... |
ORPHA:250989 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Thromboc... |
ORPHA:163979 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... |
OMIM:620294 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Death in infancy, Wide anterior fontanel, Respiratory failure, Hypertonia, Myo... |
OMIM:618240 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Cryptorchidism, Bicuspid aortic valve, Decreased testicular size |
OMIM:300997 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Cerebellar vermis hypoplasia, Abnormal pinna morphology, Respiratory insufficiency... |
OMIM:618291 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Congenital Disorder Of Glycosylation, Type In |
|
Ataxia, Sensorineural hearing impairment, Respiratory insufficiency, Myoclonus, Spasticity |
OMIM:612015 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Death in infancy, Hepatomegaly, Ventricular septal defect, Nephrogenic diabetes insipidus, Arthro... |
OMIM:613404 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... |
ORPHA:391641 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis |
OMIM:185800 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abn... |
OMIM:607317 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... |
ORPHA:2549 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal aortic morph... |
ORPHA:1166 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Co... |
ORPHA:2876 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Ataxia, Recurrent pneumon... |
ORPHA:496641 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Hepatosplenomegaly |
OMIM:618955 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Pontocerebellar Hypoplasia, Type 1D |
|
Cerebellar atrophy, Respiratory insufficiency, Tongue fasciculations, Low-set ears, Fasciculation... |
OMIM:618065 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Facial palsy |
OMIM:615348 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Death in infancy, Posterolateral diaphragmatic hernia, Adrenal hypoplasia, Morg... |
OMIM:613177 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple... |
ORPHA:261494 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Apnea, Hypoplasia of the pons, Hydrocephalus, Spastic paraplegia, Optic atrophy, Opisthot... |
OMIM:614969 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Apnea, Clonus, Optic atrophy, Respiratory failure, Hypertonia, Low-... |
OMIM:617301 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cerebellar vermis hypoplasia, Apnea, Hypertonia, Myoclonus, Cyanotic episode |
OMIM:610992 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Increased nuchal translucency, ... |
ORPHA:453499 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:617744 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Ventricular septal defect, Nephrogenic diabetes insipidus, Atrial septal defect... |
OMIM:208085 |
Stiff Skin Syndrome |
|
Elbow flexion contracture, Bicuspid aortic valve, Camptodactyly, Knee flexion contracture |
OMIM:184900 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si... |
OMIM:616505 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Hepatomegaly, Patent ductus arteriosus, Flexion contracture, Ragged-red ... |
ORPHA:17 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
Full Schwannomatosis |
|
Bilateral vestibular schwannoma, Schwannoma, Peripheral schwannoma, Fasciculations, Tinnitus, Hea... |
ORPHA:93921 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Abnormal pinna morphology, Optic atrophy, Hypertonia, Apneic episodes i... |
ORPHA:3078 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Decreased distal sensory nerve action potential, Sensorineural hearing impairment, Stridor, Respi... |
OMIM:606071 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Macrotia, Prominent antihelix, Cerebellar hypoplasia, Truncal ataxia, Acrocyanosis, Intention tremor |
OMIM:614407 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Sensorineural hearing impairment, Ataxia, Myoclonus, Spasticity |
OMIM:545000 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Facial palsy, Hearing impairment, External ear malformation, A... |
ORPHA:138 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... |
ORPHA:1435 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Syndromic Diarrhea |
|
Lymphopenia, Hepatomegaly, Ventricular septal defect, Bicuspid aortic valve, Increased mean plate... |
ORPHA:84064 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Craniosynostosis And Dental Anomalies |
|
Papilledema, Stapes ankylosis, Absent malleus, Chiari malformation, Conductive hearing impairment... |
OMIM:614188 |
Distal Deletion 15Q |
|
Decreased serum insulin-like growth factor 1, Bicuspid aortic valve, Mitral atresia, Congenital d... |
ORPHA:1596 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Ventricular septal defect, Double outlet right ventricle, Coarctation of aort... |
ORPHA:3426 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Decr... |
ORPHA:206436 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Developmental And Epileptic Encephalopathy 23 |
|
Hypoplasia of the pons, Abnormal pinna morphology, Myoclonus |
OMIM:615859 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly |
OMIM:614846 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis |
OMIM:616201 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Posteriorly rotated ears, Wide anterior fontanel, Hydrocephalus, ... |
ORPHA:3309 |
Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Respiratory failure, Facial palsy, Low-set ears |
ORPHA:171430 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Short neck, Low posterior hairline, Aortic root... |
ORPHA:96201 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor... |
OMIM:618876 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Decreased testicular siz... |
ORPHA:335 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia |
OMIM:617450 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Facial palsy |
OMIM:604801 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Short neck, Abnormal aortic morphology, Webbed neck, Truncus arteriosus |
ORPHA:2516 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, He... |
ORPHA:139485 |
Madras Motor Neuron Disease |
|
Facial palsy, Abnormal cerebellum morphology, Sensorineural hearing impairment, Babinski sign, Op... |
ORPHA:137867 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... |
OMIM:314400 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Ataxia, Choreoathetosis, Myoclonus, Progressive sensorineural hearing impairm... |
OMIM:301020 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis, Adrenal insufficiency |
ORPHA:251076 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Short neck, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis, W... |
OMIM:616559 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Ataxia, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due t... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Ataxia, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due t... |
ORPHA:590 |
Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... |
OMIM:615957 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... |
ORPHA:2396 |
Alg3-Cdg |
|
Abnormality of the endocrine system, Coarctation of the descending aortic arch, Cardiomyopathy, M... |
ORPHA:79321 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Posteriorly rotated ears, Dyspnea, Abnormal antitragus morphology, Respirat... |
ORPHA:2759 |
Perlman Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Hypoplasia of the abdominal wall musculature, Pa... |
OMIM:267000 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Conductive hearing impairment, Respiratory failure, Ataxia, Communicating hydrocephalus |
ORPHA:1861 |
Grange Syndrome |
|
Coronary artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Carotid artery stenosis |
OMIM:602531 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Sensorineural hearing impairment, Babinski sign, Spastic tetraplegia, Opi... |
OMIM:619847 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... |
ORPHA:2257 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Hypot... |
OMIM:610443 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Leigh Syndrome |
|
Chorea, Choreoathetosis, Ataxia, Abnormal brainstem MRI signal intensity, Athetosis, Abnormal den... |
ORPHA:506 |
Microtriplication 11Q24.1 |
|
Attached earlobe, Speech apraxia, Posteriorly rotated ears, Retrocerebellar cyst, Hyperkinetic mo... |
ORPHA:289522 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Hypoplasia of the thymus, Conotruncal defect |
ORPHA:40366 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Umbilical hernia, Paten... |
OMIM:616028 |
Sandhoff Disease, Adult Form |
|
Tremor, Gait ataxia, Fasciculations, Spasticity, Sensory axonal neuropathy |
ORPHA:309169 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Coarctation of aorta, Leukopenia, Lymphopenia |
OMIM:620210 |
Narp Syndrome |
|
Optic disc pallor, Ataxia, Babinski sign, Progressive gait ataxia, Myoclonic spasms, Hearing impa... |
ORPHA:644 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Abnormality of the thyroid gland, Coarctation of aorta, Abnormal aorti... |
ORPHA:1923 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Ankle clonus, Hemiparesis, Respiratory failure, Tongue fasciculations, Tetraparesis |
OMIM:600561 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... |
OMIM:609192 |
Rabies |
|
Vocal cord paresis, Cerebral palsy |
ORPHA:770 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Optic atrophy, Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function... |
ORPHA:352596 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormality of the parathyroid gland, Secondary hyperparathyroidism |
ORPHA:140286 |
Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Sensorineural hearing impairmen... |
ORPHA:2789 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Short neck, Cryptorchidism, Coarctatio... |
OMIM:616145 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Hearing impairment, Tremor, Respiratory failure... |
OMIM:620327 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Vertigo, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Cerebellar atrophy, Sensorineural hearing impairment, Optic atrophy, Respiratory insufficiency, R... |
OMIM:618329 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia |
ORPHA:3405 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Resting tremor, Cerebellar atrophy, Incoordination, Ataxia, Centr... |
OMIM:615157 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Facial palsy, Decreased size of nerve terminals, Res... |
ORPHA:98913 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Acute Peripheral Arterial Occlusion |
|
Paralysis |
ORPHA:90064 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progre... |
ORPHA:95434 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Sensorineural hea... |
OMIM:220110 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Abnormality of the middle ear ossic... |
ORPHA:949 |
Chondrodysplasia, Blomstrand Type |
|
Stillbirth, Preductal coarctation of the aorta |
OMIM:215045 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:614895 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Ataxia, Apnea, Dyspnea, Sensorineural hearing impairment,... |
OMIM:615636 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, Elbow flexion c... |
OMIM:245600 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Flexion contracture, Low posterior hairl... |
OMIM:619720 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Cryptorchidism, Atrial... |
OMIM:619189 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Tachypnea, De... |
OMIM:615838 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Myoclonus, Tongue fasciculations, Death in chi... |
OMIM:614922 |
Pontocerebellar Hypoplasia, Type 2E |
|
Cerebellar atrophy, Optic atrophy, Spastic tetraplegia, Opisthotonus, Large earlobe, Hypertonia, ... |
OMIM:615851 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland |
ORPHA:2762 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... |
ORPHA:3236 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Sensorineural hearing impairment, Myoclonus, Dysmetria, Death in childhood |
OMIM:618251 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Hyperkinetic movements, Upper limb spasticity, Macrotia, Cerebellar dysplasia |
ORPHA:457240 |
X-Linked Mandibulofacial Dysostosis |
|
Cryptorchidism, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morpholo... |
ORPHA:1131 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Posteriorly rota... |
OMIM:618598 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Wide anterior fontanel, Hydrocephalus, Respiratory failure, ... |
OMIM:616482 |
Craniometaphyseal Dysplasia |
|
Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormal cranial n... |
ORPHA:1522 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Respiratory insufficiency due to muscle weakness, Sensorineural hearing impairment, Facial dipleg... |
OMIM:612073 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Saethre-Chotzen Syndrome |
|
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop... |
ORPHA:794 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficien... |
OMIM:614299 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Supernumerary ... |
ORPHA:457279 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Distal Renal Tubular Acidosis |
|
Respiratory insufficiency due to muscle weakness, Sensorineural hearing impairment, Enlarged vest... |
ORPHA:18 |
Apert Syndrome |
|
Delayed eruption of teeth, Cryptorchidism, Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defec... |
OMIM:309801 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Type II diabetes mellitus, Short neck |
ORPHA:401923 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Short neck, Patent ductus arteriosus, Increased nuchal translucency, Hydrocele testis, Proximal m... |
ORPHA:280633 |
Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve, Foot joint contracture |
OMIM:619641 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Prominent superficial veins, Cor triatriatum, Intermittent thrombocytopenia, Secund... |
OMIM:612541 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Facial palsy, Restrictive ventilatory defect, Respiratory failure, Frequent f... |
OMIM:606612 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,... |
ORPHA:185 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence |
OMIM:300717 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... |
OMIM:300400 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Cyanosis, Ataxia, Apnea, Gait ataxia, Opisthotonus, Choreoathetosis, Limb hyp... |
OMIM:619580 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Sensorineural hearing impai... |
OMIM:300957 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Short neck, Cryptorchidism, Patent ductus arter... |
OMIM:610759 |
Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetraplegia, ... |
ORPHA:3240 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly... |
ORPHA:290 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Ataxia, Respiratory failure, Progressive hearing impairment, Frequent falls |
OMIM:620166 |
Diabetic Embryopathy |
|
Ventricular septal defect, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, ... |
ORPHA:1926 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary ... |
OMIM:100300 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Optic disc pallor, Torticollis, Optic atrophy, Limb ataxia, Gait ataxia, Titu... |
ORPHA:98768 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Optic disc pallor, Death in infancy, Cyanosis, Ataxia, Apnea, Optic neuropath... |
OMIM:252010 |
Leukodystrophy, Hypomyelinating, 10 |
|
Babinski sign, Hypoplasia of the brainstem, Hyperkinetic movements, Low-set ears, Hypoplasia of t... |
OMIM:616420 |
Bronchopulmonary Dysplasia |
|
Right ventricular hypertrophy |
ORPHA:70589 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Respiratory failure, Low-set ears |
ORPHA:1194 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Optic atrophy, Spastic tetraplegia, Respiratory insufficiency |
OMIM:615330 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Babinski sign, Vocal cord paralysis, Optic atrophy, Hand tremor, Poor fine motor... |
ORPHA:99947 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... |
ORPHA:1600 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Babinski sign, Ankle clonus, Respi... |
OMIM:613954 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Hydrocephalus, Wheezing, Bronchiectasis, Airway ... |
ORPHA:244 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Trunc... |
ORPHA:401935 |
Fetal Minoxidil Syndrome |
|
Cryptorchidism, Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy |
ORPHA:444013 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Vertigo, Babinski sign, Loss of Purkinje cells in the cerebellar vermis, Truncal ataxia, ... |
ORPHA:276198 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Patent ductus arteriosus, Right atrial enlargement, Bicuspid aortic valve, Mitral valve prolapse |
ORPHA:555877 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:619721 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... |
OMIM:616276 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Hypoplasia of the pons, Optic atrophy, Myoclonus, Cerebellar hypoplasia,... |
OMIM:617669 |
Sandestig-Stefanova Syndrome |
|
Angulated antihelix, Respiratory failure, Low-set ears, Underdeveloped tragus |
OMIM:618804 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... |
OMIM:613834 |
Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Atrial sep... |
ORPHA:101028 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Dyspnea, Chorea, Choreoathetosis, Hyperkinetic move... |
ORPHA:98810 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Low-set ears, Lobar holoprosencephaly |
OMIM:614701 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasciculations, Hydroc... |
OMIM:617281 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Fasciculations, Chronic axonal neuropathy |
OMIM:606595 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Hyperekplexia 4 |
|
Umbilical hernia, Respiratory failure, Hypertonia, Myoclonus |
OMIM:618011 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Ataxia, Delayed peripheral myelination, Sensorineural hearing impairment, ... |
ORPHA:464282 |
Squalene Synthase Deficiency |
|
Bilateral cryptorchidism, Bicuspid aortic valve, Elbow flexion contracture, Knee flexion contracture |
OMIM:618156 |
Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
Neutral Lipid Storage Disease With Myopathy |
|
Sensorineural hearing impairment, Fasciculations |
OMIM:610717 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements,... |
OMIM:616981 |
Tarp Syndrome |
|
Low-set, posteriorly rotated ears, Cyanosis, Apnea, Optic atrophy, Prominent antihelix, Abnormal ... |
ORPHA:2886 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Hypertonia, Myoclonus, Low-set ears, Overfolded h... |
OMIM:619092 |
Congenital Aortic Valve Stenosis |
|
Thoracic aortic aneurysm, Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocar... |
ORPHA:3093 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1937 |
Distal Triplication 15Q |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contracture, Abnormal heart morphology... |
ORPHA:314588 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality of the parathyroid gland, Pol... |
ORPHA:2969 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Overriding aorta, Tetralogy of Fallot |
ORPHA:3186 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Cryptorchidism, Increased... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Cryptorchidism, Increased... |
ORPHA:352665 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Parkinsonism, Abnormal cerebellum morphology, Optic atrophy, Abnormality of extrapyramidal motor ... |
OMIM:204200 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Low posterior hairline, Join... |
OMIM:179613 |
Fryns Syndrome |
|
Thickened nuchal skin fold, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Abnormal... |
ORPHA:2059 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis |
OMIM:614198 |
Familial Cervical Artery Dissection |
|
Facial palsy, Paralysis |
ORPHA:36382 |
Fibrodysplasia Ossificans Progressiva |
|
Conductive hearing impairment, Sensorineural hearing impairment, Respiratory failure, Respiratory... |
OMIM:135100 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Cyanosis, Spastic tetraplegia, Athetosis, Hypertonia, Spasticity, Exertional ... |
ORPHA:621 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent du... |
OMIM:618652 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Short neck, Spina bifida, F... |
ORPHA:508498 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Vertigo, Sensorineural hearing impairment, Respiratory failure, Chronic otitis media, Bruising su... |
ORPHA:3226 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... |
OMIM:220210 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Short neck, Thrombocytopenia, Patent ductu... |
OMIM:606003 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia |
OMIM:613869 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa... |
OMIM:618624 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Aganglionic megacolon, Chiari type I malformation, Abnormal cochlea mo... |
ORPHA:798 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal degeneration, Diaphra... |
OMIM:604320 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Spastic tetraparesis, Respiratory insufficiency, Opisthotonus, Respiratory fail... |
OMIM:605711 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... |
OMIM:243150 |
Developmental And Epileptic Encephalopathy 16 |
|
Hemiparesis, Optic atrophy, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:615338 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse |
OMIM:616166 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:600882 |
Acquired Methemoglobinemia |
|
Respiratory distress, Cyanosis, Dyspnea, Vertigo, Hypoxemia |
ORPHA:464453 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Abnormal pinna morphology, Dyspnea, Wide anterior fontanel, Cardiorespiratory arrest, Restrictive... |
ORPHA:26791 |
Episodic Ataxia Type 7 |
|
Episodic ataxia, Vertigo, Hyperkinetic movements, Tinnitus |
ORPHA:209970 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Ataxia, Optic atrophy, Dysmetria, Myoclonus, Low-set ears, Umbilical herni... |
ORPHA:93399 |
Idiopathic Pulmonary Arterial Hypertension |
|
Chronic hemolytic anemia, Abnormal jugular vein morphology, Right ventricular hypertrophy |
ORPHA:275766 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Broad neck, Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Hypo... |
OMIM:617506 |
22Q11.2 Deletion Syndrome |
|
Short neck, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal defect, Hypo... |
ORPHA:567 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Involuntary movements, Epistaxis, Spastic tetraplegia, Hemiparesis, Poor fine mo... |
ORPHA:268943 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... |
OMIM:612946 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Cryptorchidis... |
ORPHA:3097 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Webbed neck |
OMIM:601355 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hypoplasia of the pons, Intercostal muscle weakness, Hand tremor, Limb ataxia, Degenerati... |
OMIM:607596 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Prominent ear helix, Large earlobe, Myoclonus |
ORPHA:411986 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Short neck |
ORPHA:2001 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Bicuspid aortic valve, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptor... |
ORPHA:1772 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Facial hypotonia, Abnormal cardiac ventricle morphology, Hypopl... |
ORPHA:261311 |
Chiari Malformation Type Ii |
|
Cyanosis, Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopath... |
OMIM:207950 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve, Delayed eruption of primary teeth |
OMIM:616367 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Paraparesis, Sensorineural hearing impairment, Oromotor apraxia, C... |
OMIM:617854 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Abnormal sensory nerve conduction velocity, Tongue fasciculations, Fasciculations, Upper ... |
ORPHA:276435 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosi... |
OMIM:615355 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Peripheral axonal neuropathy, Facial-lingual fasciculatio... |
ORPHA:276244 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Enhancement of the C-reflex, Myoclonus |
OMIM:615127 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... |
OMIM:619657 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Abnormality of the ne... |
ORPHA:904 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Death in infancy, Ventricular septal defect, Hepatomegaly |
OMIM:614876 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ... |
OMIM:614153 |
Congenital Sialidosis Type 2 |
|
Ataxia, Hydrocephalus, Optic atrophy, Dysmetria, Telangiectasia, Myoclonus, Low-set ears, Umbilic... |
ORPHA:93400 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Fasciculations |
OMIM:615575 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Low-set ears |
OMIM:617895 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Mixed hearing impairment, Ataxia, Thickened helices, Abnormality of the middl... |
ORPHA:581 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Peho-Like Syndrome |
|
Cerebellar atrophy, Optic atrophy, Myoclonus |
OMIM:617507 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Cryptorchidism, Abnormal heart morphology, Hypoplasia of the thymus, Death in child... |
OMIM:214110 |
Benign Familial Infantile Epilepsy |
|
Hypertonia, Limb myoclonus, Cyanosis, Apnea |
ORPHA:306 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Hypergonadotropic hypogonadism, Ventricular septal defect, Aplastic anemia, Sho... |
OMIM:300514 |
Pulmonary Hypertension, Primary, 5 |
|
Right ventricular hypertrophy |
OMIM:265400 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Clonus, Involuntary movements, Optic atrophy, Opisthotonus, Myoclonus, L... |
OMIM:620352 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Respiratory failure, Ataxia |
OMIM:618637 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Joubert Syndrome 1 |
|
Central apnea, Optic disc pallor, Hemifacial spasm, Cerebellar vermis hypoplasia, Ataxia, Brainst... |
OMIM:213300 |
Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Spastic paraplegia, Acrocyanosis, Hearing impairment |
ORPHA:896 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal loss, Clusters of axo... |
ORPHA:101097 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex, Myoclonus |
OMIM:613608 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Cryptorchidism,... |
OMIM:617137 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Spina bifida occulta, P... |
OMIM:300707 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Ankle flexion contracture, Cryptorchidism, Pulmonary artery stenosis, Knee flexio... |
ORPHA:435938 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptor... |
ORPHA:466791 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Peripheral axonal neuropathy, Axonal loss, Respiratory failure |
OMIM:616867 |
Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia |
OMIM:613721 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal ... |
ORPHA:363400 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arte... |
ORPHA:353281 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:615490 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:612561 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus,... |
OMIM:616564 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt... |
OMIM:249270 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Tremor, Respiratory insufficiency due to muscle weakness, Degeneration of anterior ... |
OMIM:159950 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Peripheral demyelination, Paraplegia |
ORPHA:71211 |
Verheij Syndrome |
|
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck |
OMIM:615583 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Ataxia, Central hypoventilation, Apnea, Optic atrophy, Dysmetria, Respiratory failure |
OMIM:618233 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Decreased muscle mass, Ventricular septal defect, Cryptorchidism, Pate... |
ORPHA:2962 |
Koolen-De Vries Syndrome |
|
Hypothyroidism, Abnormal cardiac septum morphology, Bicuspid aortic valve, Cryptorchidism |
ORPHA:96169 |
Immunodeficiency 9 |
|
Death in infancy, Hypoplasia of the thymus, Myopathy |
OMIM:612782 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa... |
OMIM:312170 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Coronary artery atherosclerosis |
OMIM:616833 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma... |
ORPHA:168563 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Rigidity, Optic atrophy, Respiratory insufficiency, Athetosis, Myoclonus |
OMIM:618241 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Decreased response to grow... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Decreased response to grow... |
ORPHA:363958 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Prolonged somatosensory evoked potentials, Hand tremor, Myoclonus |
OMIM:608105 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Abnormal aortic morphology |
ORPHA:3222 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Prominent superficial veins, Absent nipple, Bicuspid aortic valve, Death in... |
OMIM:612289 |
Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... |
OMIM:157800 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno... |
ORPHA:1677 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Incoordination, Ataxia, Involuntary movement... |
ORPHA:209905 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Spasticity, Optic atrophy, Myoclonus, Ataxia |
OMIM:256730 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial sept... |
OMIM:300855 |
Multiple Synostoses Syndrome 1 |
|
Conductive hearing impairment, Stapes ankylosis, Bilateral conductive hearing impairment, Progres... |
OMIM:186500 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Neonatal respiratory distress, Ataxia, Decreased nerve conduction velocity, B... |
OMIM:618356 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma, Chemodectoma, Glom... |
OMIM:605373 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m... |
ORPHA:98915 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Macrotia, Abnormality of the ear |
OMIM:600776 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect,... |
ORPHA:49827 |
Costello Syndrome |
|
Posteriorly rotated ears, Wide anterior fontanel, Hydrocephalus, Pneumothorax, Respiratory insuff... |
OMIM:218040 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
Developmental And Epileptic Encephalopathy 69 |
|
Spastic tetraplegia, Hyperkinetic movements, Myoclonus |
OMIM:618285 |
Gaucher Disease, Type Ii |
|
Death in infancy, Hepatomegaly, Double aortic arch, Thrombocytopenia, Splenomegaly, Anemia |
OMIM:230900 |
Pontocerebellar Hypoplasia Type 4 |
|
Central apnea, Respiratory failure requiring assisted ventilation, Olivopontocerebellar hypoplasi... |
ORPHA:166063 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short neck, Cryptorc... |
OMIM:605275 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Parachute mitral valve, Cryptorchidism, Patent ductus arteriosus, Webb... |
OMIM:618316 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coa... |
OMIM:600460 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplastic left atri... |
OMIM:615524 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Lower-limb joint contracture, Ventricular septal defect, Pineal cyst |
ORPHA:513456 |
Nemaline Myopathy 9 |
|
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect |
OMIM:615731 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Ataxia, Crackles, Asthma, Tachypnea, Wheezin... |
OMIM:610978 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Absent nipple, Aplasia of the thymus, Facial palsy, Patent foramen o... |
OMIM:620186 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Post... |
ORPHA:75389 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Holoprosencephaly, Low... |
OMIM:619879 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Apnea, Chorea, Athetosis, Myoclonus, Dandy-Walker malformation |
OMIM:617235 |
Sialidosis Type 1 |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Slurred sp... |
ORPHA:812 |
Thyrocerebrorenal Syndrome |
|
Sensorineural hearing impairment, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Sensorineural hearing impairment, Unilateral vocal cord paresis, Spinal dysraphism, Incomplete pa... |
OMIM:617660 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... |
ORPHA:65684 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, Coarctation of aorta, A... |
OMIM:618494 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Cutaneous photosensitivity, Intention tr... |
ORPHA:308 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Chorea, Hyperkinetic movements, Myoclonus, Spasticity |
OMIM:614254 |
Charcot-Marie-Tooth Disease Type 4A |
|
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... |
ORPHA:99948 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... |
ORPHA:268 |
D-Glyceric Aciduria |
|
Neonatal respiratory distress, Optic nerve hypoplasia, Sensorineural hearing impairment, Spastic ... |
OMIM:220120 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Mmep Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:3434 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Atrophy... |
OMIM:619862 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, My... |
OMIM:619971 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Cerebellar atrophy, Optic nerve hypoplasia,... |
ORPHA:468631 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements |
OMIM:618425 |
Acrocardiofacial Syndrome |
|
Death in infancy, Hyperthyroidism, Ventricular septal defect, Mitral stenosis, Camptodactyly of f... |
ORPHA:2008 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... |
ORPHA:254343 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Asymmetry of the ears, Hypertonia, Hyperkinetic movements, Tetraparesis, Low-... |
OMIM:619124 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Exaggerated startle response, Incoordination, Tremor, Optic atrophy, Dysmetri... |
ORPHA:845 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Short neck, Webbed neck, Atrial septal defect, Hashimoto thyroiditis, Gast... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Short neck, Webbed neck, Atrial septal defect, Hashimoto thyroiditis, Gast... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Short neck, Webbed neck, Atrial septal defect, Hashimoto thyroiditis, Gast... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Short neck, Webbed neck, Atrial septal defect, Hashimoto thyroiditis, Gast... |
ORPHA:881 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cervical myelopathy, Bradypn... |
OMIM:617186 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Posteriorly rotated ears, Apnea, Respiratory ins... |
OMIM:608836 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemor... |
ORPHA:536545 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Ataxia, Hyperkinetic movements, Truncal ataxia, Macrotia |
OMIM:300243 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Camptodactyly, Atrial septal defect |
OMIM:301039 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Cerebellar atrophy, Optic atrophy, Progressive cerebellar ataxia, Chi... |
ORPHA:263516 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Myelopathy, Ho... |
ORPHA:139396 |
Lethal Acantholytic Erosive Disorder |
|
Respiratory failure, Abnormal pinna morphology, Fragile skin, Abnormal helix morphology |
ORPHA:158687 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Abnormal cerebellum morphology, Abnormality of extrapyramidal motor functio... |
OMIM:162350 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Creutzfeldt-Jakob Disease |
|
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Hemiparesis, Myocl... |
OMIM:123400 |
Machado-Joseph Disease Type 1 |
|
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... |
ORPHA:276241 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1388 |
Hunter-Macdonald Syndrome |
|
Bicuspid aortic valve, Long neck, Patent ductus arteriosus, Mitral valve prolapse, Camptodactyly,... |
OMIM:611962 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Atrophy/Deg... |
OMIM:617493 |
Spinocerebellar Ataxia Type 2 |
|
Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce... |
ORPHA:98756 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Patent ductus arteriosus, Pulmonary ... |
ORPHA:251071 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration, Abnormal sensory ne... |
ORPHA:88628 |
Sialuria |
|
Hyperkinetic movements, Upper airway obstruction, Low-set ears |
ORPHA:3166 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Patent ductus arteriosus, Tetralogy of F... |
OMIM:601005 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Episodic Ataxia, Type 5 |
|
Ataxia, Vertigo, Myoclonus, Truncal ataxia, Episodic ataxia |
OMIM:613855 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Spastic tetraparesis, Hypertonia, Myoclonus, Cyanotic episode |
ORPHA:284417 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Hypoplasia of the brainstem, Myoclonus, Death in childhood |
OMIM:619651 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Short neck, Muscular ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:612474 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Pulmonary artery dilatation, Hepatomegaly, Cor triatriatum, Ventricular septal defect, Dextrocard... |
OMIM:619534 |
Facial Onset Sensory And Motor Neuronopathy |
|
Fasciculations |
ORPHA:85162 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Ventricular septal defect,... |
OMIM:146510 |
Marfan Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Flexion contracture, Mitral annular calcification, ... |
OMIM:154700 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, M... |
OMIM:616230 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Thickened nuchal skin fold, Death in infancy, Bicuspid aortic valve, Mitral atresia, Aortic valve... |
OMIM:220111 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Chorea, Respiratory failure, Ataxia, Spasticity |
ORPHA:70472 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Neuromyotonia, Sensory axonal neuropathy, Fasciculations |
OMIM:137200 |
Trisomy 8P |
|
Posteriorly rotated ears, Hydrocephalus, Aplasia/Hypoplasia of the tragus, Conductive hearing imp... |
ORPHA:264450 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy |
OMIM:612437 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Low... |
OMIM:300963 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Precocious... |
ORPHA:438213 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot... |
OMIM:615362 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Short neck, Cryptorchidism, Splenomegaly... |
OMIM:613563 |
Nipah Virus Disease |
|
Respiratory distress, Tremor, Vertigo, Myoclonus, Cough |
ORPHA:99825 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Cerebellar atrophy, Ataxia, Myoclonus |
OMIM:616187 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosu... |
OMIM:617159 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Verloove Vanhorick-Brubakk Syndrome |
|
Cryptorchidism, Abnormality of the parathyroid gland |
ORPHA:3429 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Athetoid cerebral palsy |
OMIM:618218 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Paroxysmal vertigo, Myoclonus, Truncal ataxia, Morning myoclonic jerks, Episodic ataxia |
OMIM:607682 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Gait ataxia, Choreoathetosi... |
ORPHA:225154 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sig... |
OMIM:615491 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, Truncus arteriosus |
OMIM:617516 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double... |
OMIM:618164 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Clonus, Tremor, Sensorineural hearing impairment, Jaundice, Hypopnea, Re... |
OMIM:617248 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Cryptorchidism, Neonatal death |
OMIM:613730 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Ataxia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia,... |
ORPHA:420741 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... |
OMIM:613135 |
Encephalopathy Due To Prosaposin Deficiency |
|
Death in infancy, Myoclonus, Respiratory insufficiency |
ORPHA:139406 |
Hepatic Veno-Occlusive Disease |
|
Jaundice, Respiratory failure |
ORPHA:890 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arte... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arte... |
ORPHA:353277 |
Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus |
OMIM:125370 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
Isolated Cleft Lip |
|
Conductive hearing impairment, Chronic otitis media, Umbilical hernia, Abnormal Eustachian tube m... |
ORPHA:199302 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Optic disc pallor, Death in infancy, Tremor, Respiratory insufficiency due ... |
OMIM:615512 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Cerebellar atrophy, Decreased distal s... |
ORPHA:466768 |
Dystonia 23 |
|
Cerebellar atrophy, Torticollis, Myoclonus, Head tremor |
OMIM:614860 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Neurofibromatosis, Type Iii, Mixed Central And Peripheral |
|
Paraspinal neurofibroma, Palmar neurofibroma, Bilateral vestibular schwannoma |
OMIM:162260 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect, Death in infancy |
ORPHA:452 |
Schwannomatosis, Vestibular |
|
Ataxia, Bilateral vestibular schwannoma, Vertigo, Peripheral schwannoma, Occasional neurofibromas... |
OMIM:101000 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure, Tongue fasciculations, Fasciculations |
OMIM:613435 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Opisthotonus, Gait ataxia, Myoclonus, Low-set ears, Hemiplegia, Spasticity |
OMIM:103050 |
Foxg1 Syndrome |
|
Abnormal respiratory system physiology, Choreoathetosis, Hyperkinetic movements, Myoclonus, Spast... |
ORPHA:561854 |
Fucosidosis |
|
Abnormal pyramidal sign, Spastic tetraplegia, Spasticity, Acrocyanosis, Vascular skin abnormality... |
ORPHA:349 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Pseudohypoparathyroidism, Short neck |
OMIM:612463 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Dilated fourth ventricle, Chorea, B... |
OMIM:164400 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Myoclonus |
OMIM:600143 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Persistence of... |
OMIM:619769 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Death in childho... |
OMIM:612938 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Contracture of the proximal interphalangeal joint of the 2nd toe, Vent... |
OMIM:300166 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... |
ORPHA:488618 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration, F... |
OMIM:614436 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Inherited Creutzfeldt-Jakob Disease |
|
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... |
ORPHA:282166 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... |
OMIM:613728 |
Thyrocerebroretinal Syndrome |
|
Sensorineural hearing impairment, Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough |
OMIM:263000 |
Full Nf2-Related Schwannomatosis |
|
Facial palsy, Bilateral vestibular schwannoma, Myelopathy, Sensorineural hearing impairment, Hydr... |
ORPHA:637 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Frequent falls, Respiratory failure |
ORPHA:75840 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Ventricular septal defect, Facial hypotonia, Supernumerary nipple, Congenital diaph... |
OMIM:312870 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, At... |
ORPHA:79138 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Paragang... |
ORPHA:94080 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arterios... |
OMIM:270100 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Chorea, Opisthotonus, Myoclonus, Tetraparesis, Cerebellar hypoplasia, Hearing... |
OMIM:616672 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Death in infancy, Apnea, Central hypoventilation, Sensorineural hearing impairment, Myoclonus, Ne... |
OMIM:620167 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis |
ORPHA:43 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
Char Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti... |
ORPHA:46627 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duct... |
ORPHA:2519 |
Myoclonus-Dystonia Syndrome |
|
Spinal myoclonus, Limb myoclonus, Torticollis, Myoclonus |
ORPHA:36899 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Cerebellar vermis hypoplasia, Uplifted earlobe, Babinski sign, Retrocerebellar cyst, Myoclonus, S... |
ORPHA:364028 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphalangeal thumb j... |
OMIM:613870 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Cryptorchidism, Patent ductus arteriosus, Abnormality of the ad... |
ORPHA:861 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Cardiac rhabdomyoma, Pulm... |
ORPHA:805 |
Niemann-Pick Disease Type C |
|
Speech apraxia, Lower limb spasticity, Ataxia, Tremor, Chorea, Jaundice, Abnormal pyramidal sign,... |
ORPHA:646 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Cyanosis |
ORPHA:488627 |
Hemimegalencephaly |
|
Hemiparesis, Optic atrophy, Myoclonus |
ORPHA:99802 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Clonus, Hydrocephalus, Optic atrophy, Spastic tetraplegia, Respi... |
OMIM:259720 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Tympanosclerosis |
OMIM:240300 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... |
ORPHA:163634 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Increased nuchal translucency, M... |
OMIM:615668 |
Norrie Disease |
|
Clonus, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphol... |
ORPHA:649 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Limb myoclonus, Apnea, Clonus |
ORPHA:1949 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Ataxia, Gait ataxia, Abnormal helix morphology, Thickened helices, Acrocya... |
ORPHA:2896 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism, Facial-lingual fasciculations... |
OMIM:109150 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... |
ORPHA:397946 |
Holoprosencephaly |
|
Encephalocele, Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valve morphology,... |
ORPHA:2162 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Premature thelarche, Spina bifida, Bilateral cryptor... |
OMIM:180849 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Ventricular septal defect, Hydrocele testis, Aortic root aneurysm, Atrial septal defect |
OMIM:145420 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Precocious puberty, Cryptorchidism, Hypogonadism, Tetralogy of Fallot |
ORPHA:3306 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Spastic dysarthria, Dysdiado... |
ORPHA:313772 |
Metatropic Dysplasia |
|
Peripheral axonal neuropathy, Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Microcephaly, Amish Type |
|
Cerebellar vermis hypoplasia, Optic atrophy, Cerebellar hypoplasia, Myoclonus, Limb hypertonia |
OMIM:607196 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Pneumothorax, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoatheto... |
ORPHA:445038 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Camptodactyly |
OMIM:618529 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... |
OMIM:231005 |
3C Syndrome |
|
Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Adrenal hypoplasia... |
ORPHA:7 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
Prune Belly Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Aplasia of the abdominal wal... |
ORPHA:2970 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Death in infancy, Myoclonus |
OMIM:217200 |
Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Maternal diabetes, Large placenta, Patent ductus arteriosus, Coarctati... |
ORPHA:1708 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Complete atrioventric... |
OMIM:264480 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Babinsk... |
OMIM:602099 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Facial palsy, Abnormal respiratory system physiology, Facial diplegia, Respiratory fai... |
ORPHA:98905 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Macroglossia, Umbilical hernia, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:614501 |
Emanuel Syndrome |
|
Thickened nuchal skin fold, Torticollis, Ventricular septal defect, Truncus arteriosus, Delayed e... |
OMIM:609029 |
Listeriosis |
|
Respiratory distress, Ataxia, Pneumonia, Miscarriage, Tremor, Abnormal brainstem MRI signal inten... |
ORPHA:533 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Optic atrophy, Apnea |
OMIM:261680 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Respiratory paralysis, Paralysis |
ORPHA:449285 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Weakness due to upper motor neuron dysfunction, Facial... |
ORPHA:79139 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Babinski sign, Optic atrophy, Myoclonus, Truncal ataxia, Spasticity |
OMIM:252011 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction |
ORPHA:401901 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lower limb spasticity, Death in infancy, Spasticity, Abnormal pons morphology, Respiratory failur... |
OMIM:300868 |
D-Glyceric Aciduria |
|
Chorea, Myoclonus, Spasticity, Hearing impairment |
ORPHA:941 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... |
ORPHA:36238 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Hypothyroidism, Cryptorchidism, Pulmonic stenosis, Atrial septal defec... |
ORPHA:3282 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Right ventricular hypertrophy |
ORPHA:217563 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Babinski sign, Optic atrophy, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoclonus... |
ORPHA:401866 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores... |
ORPHA:3342 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Decreased nerve conduction velocity, Vocal cord paralysis |
ORPHA:397744 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic par... |
OMIM:614487 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Short neck |
ORPHA:464288 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Shor... |
OMIM:614294 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
ORPHA:352447 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy |
ORPHA:2707 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... |
ORPHA:79126 |
Duane Retraction Syndrome |
|
External ear malformation, Sensorineural hearing impairment, Spina bifida occulta, Blepharospasm,... |
ORPHA:233 |
Esophageal Atresia |
|
Respiratory distress, Cyanosis, Laryngotracheomalacia, Episodic respiratory distress, Abnormality... |
ORPHA:1199 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Decreased response to growth hormone s... |
OMIM:601808 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina... |
ORPHA:1908 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Hyperkinetic movements, Ataxia |
OMIM:271980 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
King-Denborough Syndrome |
|
Ventricular septal defect, Short neck, Bilateral cryptorchidism, Cryptorchidism, Centrally nuclea... |
OMIM:619542 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart |
OMIM:618142 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Hyperkinetic movements, Clumsiness |
ORPHA:725 |
Epilepsy, Progressive Myoclonic, 9 |
|
Action myoclonus, Frequent falls, Myoclonus, Gait ataxia |
OMIM:616540 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Death in infancy, Death in childhood, Myoclonus, Atrophy/Degeneration affecti... |
OMIM:614946 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Torticollis, Ventricular septal defect, Bicuspid aortic valve, Dilatation of the cerebral artery,... |
OMIM:619475 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Ventricular septal defect, Short neck, Complete atri... |
ORPHA:508488 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Abnormal midbrain morphology, Central hypoventilation, Sensorineural h... |
ORPHA:293987 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Ataxia, Clonus, Babinski sign, Opisthotonus, Large earlobe, Limb hypertonia, Microtia, Myoclonus,... |
OMIM:618076 |
Williams-Beuren Syndrome |
|
Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Retinal arteriolar tortuosit... |
OMIM:194050 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Myoclonus |
OMIM:159900 |
Alg1-Cdg |
|
Cerebellar atrophy, Respiratory failure |
ORPHA:79327 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus |
OMIM:619317 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Myoclonus, Low... |
ORPHA:314655 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Dystonia, Spasticity |
ORPHA:500144 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Cryptorchidism, Aort... |
OMIM:620025 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Short neck, Precocious puberty, Cryptorchidism, Patent ductus arterios... |
OMIM:201000 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Weakness of muscles of respiration, Cranial nerve compression, Fasciculations, Motor axonal neuro... |
ORPHA:52430 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Spasticity, Myoclonus, Tetraparesis, Hearing impairment |
OMIM:618972 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, ... |
ORPHA:79263 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements... |
OMIM:615273 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Abnormal cerebellar peduncle morphology, Prematurel... |
ORPHA:909 |
Pseudohypoparathyroidism, Type Ii |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism |
OMIM:203330 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ... |
ORPHA:98763 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Death in adolescence, Myoclonus, Death in childhood, Hearing impairment |
OMIM:560000 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hearing impairment, Respiratory insufficiency due to muscle weak... |
ORPHA:365 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Thrombocytopenia, Leukopenia, Atrial septal defect, Hypothyroidism, An... |
OMIM:620184 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Pulmonary artery stenosis, Pa... |
ORPHA:96167 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo... |
OMIM:620024 |
Tibial Muscular Dystrophy |
|
Respiratory failure, Clumsiness |
ORPHA:609 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, ... |
OMIM:607136 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... |
OMIM:614262 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Delayed eruption of permanent teeth, Ventricular septal defect |
OMIM:618506 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Coarctation of ... |
OMIM:614114 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left... |
ORPHA:141127 |
Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Facial palsy, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fasciculations, Knee... |
OMIM:211530 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus |
OMIM:256731 |
Orofaciodigital Syndrome Type 3 |
|
Cerebellar vermis hypoplasia, Myoclonus, Low-set ears, Oculomotor apraxia, Spasticity, Dandy-Walk... |
ORPHA:2752 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... |
ORPHA:435638 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, Trun... |
ORPHA:261330 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Microtia, third degree, Posteriorly rotated ears, Dyspnea, Respiratory fail... |
ORPHA:2554 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Miscarriage, Interphalangeal joint ... |
ORPHA:96334 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis, Pulmonary artery stenosis, Ventricular septal defect, Congenital diaphrag... |
OMIM:611812 |
Down Syndrome |
|
Thickened nuchal skin fold, Redundant neck skin, Ventricular septal defect, Complete atrioventric... |
OMIM:190685 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve, Chalazion |
OMIM:613355 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Ataxia, Optic neuropathy, Tremor, Dyspnea, Optic atrophy, Respiratory insuffici... |
OMIM:610505 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cer... |
OMIM:607346 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Spina bifida, Congenital diaphragmatic hernia, Situs inversus to... |
ORPHA:991 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Lower limb spasticity, Babinski sign, Fasciculations, Restrictive ventilatory defect |
OMIM:615290 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Abnormal motor nerve conduction velocity, Par... |
ORPHA:2912 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of the thymus, Type I diabetes... |
ORPHA:436252 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Patent duct... |
OMIM:164210 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Coarctation of aorta,... |
OMIM:617602 |
Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Short neck, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hype... |
OMIM:615279 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Vasculitis... |
ORPHA:906 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G... |
OMIM:133190 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Pneumothorax, Hypertonia, Hyperkinetic ... |
OMIM:619738 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Scapular winging, Internal carotid artery dissection, Bicuspid aortic valve, Cerebral arterioveno... |
OMIM:150230 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Cryptorchidism, Leukopenia, Pulmoni... |
OMIM:301056 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar a... |
ORPHA:248111 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus |
OMIM:619647 |
Hyperparathyroidism 4 |
|
Primary hyperparathyroidism, Parathyroid carcinoma |
OMIM:617343 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Pancytopenia, Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent duc... |
OMIM:614576 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Ataxia, Oculomotor apraxia, Cupped ear, Telangiectasia, Myoclonus, Thicken... |
ORPHA:247262 |
Spinocerebellar Ataxia 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism, Postural tremor, Rigidity, Ba... |
OMIM:183090 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short neck, Elevated circulating thyroid-stimulating hormone concentra... |
OMIM:612462 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Optic atrophy, Myoc... |
ORPHA:442835 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia |
OMIM:619909 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Spasticity |
OMIM:615924 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Short neck |
ORPHA:2328 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... |
OMIM:618775 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus |
OMIM:619028 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Co... |
ORPHA:1335 |
Ogden Syndrome |
|
Cryptorchidism, Pulmonary artery stenosis, Ventricular septal defect, Torticollis |
ORPHA:276432 |
Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Atrophy/Degeneration affecting the brainstem, ... |
ORPHA:88644 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Redundant neck skin, Ventricular septal defect, Truncus arteriosus, Mu... |
ORPHA:96170 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Achilles tendon calcification, Elevated circulating parathyroid hormone ... |
OMIM:617994 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Facial palsy, Abnormal brainstem MRI signal intensity, Respiratory insufficiency... |
ORPHA:258 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... |
OMIM:618901 |
Neuraminidase Deficiency |
|
Sensorineural hearing impairment, Slurred speech, Myoclonus, Dysmetria |
OMIM:256550 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short neck, Cryptorchidism, Patent ductus art... |
OMIM:244300 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Parathyroid carcino... |
OMIM:145001 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Diastasis recti, Splenomegaly, Patent ductus arteriosus,... |
OMIM:608149 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Hypertonia, Limb tremor, Myoclonus |
OMIM:300699 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Spasticity, Respiratory failure, Opisthotonus |
OMIM:610678 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Tetralog... |
OMIM:618748 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Hearing impairment |
ORPHA:589 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega... |
OMIM:614921 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren... |
ORPHA:369929 |
Immunodeficiency 23 |
|
Ataxia, Allergic rhinitis, Sensorineural hearing impairment, Erythema, Asthma, Bronchiectasis, My... |
OMIM:615816 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl... |
OMIM:604484 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thickened nuchal skin fold, Death in infancy, Hepatomegaly, Redundant neck skin, Ventricular sept... |
OMIM:235255 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Vertigo, Telangiectasia of the skin, Respiratory failure |
ORPHA:679 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus |
OMIM:102300 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Vocal cord paresis, ... |
OMIM:601152 |
Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
Peho Syndrome |
|
Cerebellar atrophy, Optic atrophy, Myoclonus, Peripheral dysmyelination |
OMIM:260565 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis |
OMIM:188580 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Parathyroid hyperplasia, Hyperparathyroidism, Elevated circulating parathyroid hormone level |
OMIM:612089 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Paralysis |
ORPHA:83601 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:204300 |
9P13 Microdeletion Syndrome |
|
Abnormality of cartilage of external ear, Hand tremor, Myoclonus, Low-set ears, Recurrent otitis ... |
ORPHA:324313 |
Ethylene Glycol Poisoning |
|
Cyanosis, Ataxia, Facial palsy, Tachypnea, Slurred speech, Episodic respiratory distress, Myoclon... |
ORPHA:31826 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... |
OMIM:265120 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Cryptorchidism, Neutropenia, Atrial septal defect, Anemia |
OMIM:618067 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism |
OMIM:603233 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Low posteri... |
ORPHA:2345 |
Bloom Syndrome |
|
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory failure, Rhinitis, Otitis m... |
ORPHA:125 |
Dystonia 6, Torsion |
|
Torticollis, Myoclonus |
OMIM:602629 |
Pontocerebellar Hypoplasia Type 7 |
|
Involuntary movements, Olivopontocerebellar hypoplasia, Optic atrophy, Hypoplasia of the brainste... |
ORPHA:284339 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Ventricular septal defect, Increased nuchal translucency, Patent ductus arterio... |
OMIM:618870 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus |
OMIM:204500 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cryptorchidism, Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Exertional dyspnea, Cyanosis, Opisthotonus |
OMIM:250800 |
Developmental And Epileptic Encephalopathy 40 |
|
Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis |
OMIM:617065 |
Progeroid Short Stature With Pigmented Nevi |
|
Aortic valve stenosis, Diabetes mellitus, Bicuspid aortic valve, Delayed puberty |
OMIM:176690 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism, Ventricular septal defect, Flexion contracture, Ascending tubular aorta aneurysm,... |
OMIM:309520 |
Trisomy 13 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Cystic... |
ORPHA:3378 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Per... |
OMIM:613001 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ventricular septal defect, Bicuspid aortic valve, Short neck, Flexion contracture, Atrial septal ... |
OMIM:271640 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypertonia, Choreoathetosis, Myoclonus |
OMIM:261630 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Respiratory distress, Neonatal respiratory distress, Cyanosis, Ataxia, Apnea,... |
OMIM:618426 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... |
ORPHA:251347 |
Mepan Syndrome |
|
Cerebellar atrophy, Ataxia, Chorea, Optic atrophy, Myoclonus, Spasticity |
ORPHA:508093 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Limited neck range of motion, Ventricular septal defect, Low posterior hairline, Short neck |
OMIM:214300 |
Alexander Disease Type Ii |
|
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Abnormal auto... |
ORPHA:363722 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Hydrocephalus, Tachypnea, Optic atrophy, Cough, Hemiplegia, Cerebellar malformation |
ORPHA:137675 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short neck, Pseudohypoparathyroidism, Elevated circulating parathyroid... |
OMIM:103580 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Schindler Disease, Type I |
|
Spasticity, Optic atrophy, Myoclonus |
OMIM:609241 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,... |
OMIM:617282 |
Trisomy 1Q |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidi... |
ORPHA:261344 |
Nijmegen Breakage Syndrome |
|
Hearing abnormality, Macrotia, Recurrent pneumonia, Respiratory failure, Cutaneous photosensitivity |
ORPHA:647 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Frequent falls, Nocturnal hypoventilation, Respiratory failure |
OMIM:603689 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk... |
ORPHA:13 |
Woods Syndrome |
|
Ventricular septal defect, Supernumerary nipple |
OMIM:615236 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:99880 |
Sandhoff Disease, Juvenile Form |
|
Cerebellar atrophy, Incoordination, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramida... |
ORPHA:309162 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal d... |
OMIM:612562 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Cryptorchidism, Increased nuchal translucency, Ventricular septal defect, Supernumerary nipple |
OMIM:617635 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Sensorineural hearing impairment, Myoclonus, Right hemiplegia |
OMIM:607426 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Dystonia 15, Myoclonic |
|
Myoclonus |
OMIM:607488 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma |
OMIM:608266 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:143 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Filippi Syndrome |
|
Cryptorchidism, Ventricular septal defect |
OMIM:272440 |
Fraser Syndrome 2 |
|
Respiratory failure, Atresia of the external auditory canal, Low-set ears |
OMIM:617666 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ... |
ORPHA:284289 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Short neck, Bilateral cryptorchidism, Patent ductus arteriosus, Broad ... |
OMIM:300472 |
Amyotrophic Lateral Sclerosis |
|
Spasticity, Paralysis |
ORPHA:803 |
Tangier Disease |
|
Accelerated atherosclerosis, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Ca... |
ORPHA:31150 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Atrial septal defect, Umbilical ... |
OMIM:612582 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Reduced vital capacity, Parkinsonism, Decreased nerve conduction velocity, Tremor, Facial diplegi... |
ORPHA:329478 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Axonal loss, Myoclonus, Apraxia, Spasticity, Peripheral demyelination |
OMIM:221770 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hyp... |
ORPHA:653 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Microtia, Low-set ear... |
OMIM:611209 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Hearing impairment |
OMIM:166220 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:276621 |
Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Myoclonus, Spasticity |
OMIM:616139 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... |
OMIM:617201 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... |
OMIM:609942 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Abnormal vestibular function, Peripheral axonal neuropathy, Ataxia, Sensorineural hearing impairm... |
OMIM:607459 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida |
ORPHA:2476 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypertonia, Myoclonus |
OMIM:610090 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Ventricular septal defect, Eosinophi... |
OMIM:616651 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Ataxia, Jaundice, Respiratory insufficiency, Dea... |
OMIM:607625 |
Otopalatodigital Syndrome, Type Ii |
|
Posteriorly rotated ears, Spina bifida, Wide anterior fontanel, Hydrocephalus, Respiratory insuff... |
OMIM:304120 |
Ethylmalonic Encephalopathy |
|
Ataxia, Abnormal brainstem MRI signal intensity, Abnormal pyramidal sign, Abnormality of extrapyr... |
ORPHA:51188 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Delayed puberty, Atrial septal defect, S... |
ORPHA:52 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Death in infancy, Abnormal pattern of respiration, Abnormal autonomic nervous system physiology, ... |
ORPHA:168593 |
Glycine Encephalopathy 1 |
|
Death in infancy, Myoclonus |
OMIM:605899 |
Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Ataxia, Myoclonus |
OMIM:617829 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... |
ORPHA:42775 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Hypertonia, Apnea, Myoclonus, Respiratory insufficiency |
OMIM:617290 |
Multiple Endocrine Neoplasia, Type Iib |
|
Myopathy, Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasi... |
OMIM:162300 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplas... |
OMIM:208900 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Ascending aorta hypoplasia, Flexion contra... |
OMIM:619503 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Short neck, Cryptorchidism, Abnormal heart morphology, Macroglossia, A... |
ORPHA:369891 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea, Ataxia, Myoclonus, Death in childhood, Spasticity |
OMIM:618225 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology, Myoclonus |
ORPHA:2382 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Short neck, Spina bifid... |
ORPHA:99776 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Pulmonic stenosis, Atrial septal... |
OMIM:615102 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Hearing abnormality, Microtia, Myoclonus, Cupped ear |
ORPHA:1352 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Limb hypertonia |
OMIM:233910 |
Opitz Gbbb Syndrome |
|
Natal tooth, Enlarged ovaries, Ventricular septal defect, Congenital diaphragmatic hernia, Crypto... |
ORPHA:2745 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Hydrocephalus, Erythema, Abnormality of the ear, Abnormal earlobe ... |
ORPHA:2556 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Thickened nuchal skin fold, Patent ductus arteriosus, Ventricular septal de... |
OMIM:220500 |
Developmental And Epileptic Encephalopathy 72 |
|
Hyperkinetic movements |
OMIM:618374 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Titubation, Respiratory failure, Cerebellar hypoplasia |
ORPHA:280210 |
Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... |
ORPHA:1425 |
Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Pseudobulbar paralysis, Fasciculations, Spasticity |
OMIM:105400 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... |
ORPHA:314632 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Emphysema, Optic atrophy, Protruding ear, Respiratory failure, Chiari mal... |
ORPHA:500150 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Acrocyanos... |
OMIM:602473 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect, Hypothyroidism |
OMIM:619908 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Tetraamelia Syndrome 2 |
|
Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Cutaneous photosensitivity, Myoclonus, Eyelid myoclonus |
OMIM:618357 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:457193 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Microsporidiosis |
|
Myositis, Myocarditis, Abnormality of the parathyroid gland, Abnormality of the spleen, Lymphaden... |
ORPHA:2552 |
X-Linked Intellectual Disability, Nascimento Type |
|
Broad neck, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Double outlet ri... |
ORPHA:163956 |
Aicardi-Goutières Syndrome |
|
Extrapyramidal muscular rigidity, Cutis marmorata, Tremor, Hemiplegia/hemiparesis, Abnormal pyram... |
ORPHA:51 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal vestibular function, Abnormal cerebellar cortex morphology, Gait ataxia, Myoclonus, Bila... |
ORPHA:70595 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragm... |
OMIM:613309 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Delayed eruption of teeth, Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary v... |
ORPHA:261552 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the proximal interpha... |
OMIM:300998 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Chorea, Erythema, Spastic tetraplegia, Gait ataxia, Myoclonus, Bilateral sensorineural he... |
OMIM:618321 |
Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, Cryptorchidism, Webbed neck, Atrial septal defect, Patent foramen ovale |
OMIM:618950 |
Multifocal Motor Neuropathy |
|
Motor conduction block, Fasciculations |
ORPHA:641 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Short neck |
ORPHA:52055 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Delayed eruption of teeth, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary ... |
ORPHA:261537 |
Myhre Syndrome |
|
Ataxia, Respiratory insufficiency, Respiratory failure, Microtia, Low-set ears, Hearing impairment |
OMIM:139210 |
Orofaciodigital Syndrome Iii |
|
Myoclonus, Low-set ears |
OMIM:258850 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Short neck |
ORPHA:93267 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Ventricular septal defect |
OMIM:602501 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Asplenia, Cryptorchidis... |
ORPHA:2152 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Tremor, Vocal cord paresis, Fasciculations, Polyminimyoclonus |
OMIM:619574 |
Alkaptonuria |
|
Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Thickened ... |
OMIM:203500 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent duc... |
ORPHA:261337 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620113 |
Seckel Syndrome 9 |
|
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect, Congenital diaphrag... |
OMIM:616777 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... |
ORPHA:101150 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Respiratory distress, Ataxia, Tremor, Recurrent pneumonia, Opisthotonus, Chor... |
OMIM:616271 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations |
OMIM:271200 |
Isolated Anencephaly |
|
Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Fasciculations |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Fasciculations |
OMIM:616437 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough |
ORPHA:99931 |
Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Ventricular septal defect, Abnormality of neutrophils, Hyposegmentatio... |
OMIM:169400 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Papilledema, Otosclerosis, Decreased nerve conduction velocity, Sens... |
ORPHA:580 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of the endocrine system, Abnormal vena cava morphology, Ventricular septal defect, Cr... |
ORPHA:166035 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... |
OMIM:115470 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplastic aortic arch, Facial hypotonia |
ORPHA:457284 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia |
OMIM:620249 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Short neck, Pat... |
OMIM:609053 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Hearing impairment |
OMIM:166200 |
Legius Syndrome |
|
Chiari type I malformation, Vestibular schwannoma, Neurofibroma, Hearing impairment |
ORPHA:137605 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressive spastic paraplegia |
ORPHA:306511 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paralysis |
OMIM:176000 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis, Abnormality ... |
ORPHA:79102 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Bile duct proliferation, Atri... |
OMIM:611134 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Myopathy, Myofibrillar, 2 |
|
Respiratory insufficiency due to muscle weakness, Orthopnea, Paradoxical respiration, Fasciculations |
OMIM:608810 |
Aicardi-Goutieres Syndrome 1 |
|
Cerebellar calcifications, Erythema, Abnormality of extrapyramidal motor function, Prolonged neon... |
OMIM:225750 |
Birt-Hogg-Dubé Syndrome |
|
Parathyroid adenoma, Medullary thyroid carcinoma |
ORPHA:122 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations |
ORPHA:682 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Ataxia, Babinski sign, Abnormal pyramidal sig... |
ORPHA:204 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Abnormality of the adrenal glands, Ventricular septal defect, Pu... |
ORPHA:139466 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect, Supernumerary nipple |
OMIM:106260 |
Branchiooculofacial Syndrome |
|
Agenesis of cerebellar vermis, Posteriorly rotated ears, Facial palsy, Sensorineural hearing impa... |
OMIM:113620 |
Congenital Myopathy 15 |
|
Vocal cord paralysis |
OMIM:620161 |
Melas |
|
Peripheral axonal neuropathy, Abnormal central motor function, Ataxia, Sensorineural hearing impa... |
ORPHA:550 |
Pgm3-Cdg |
|
Mild neurosensory hearing impairment, Ataxia, Allergic rhinitis, Sensorineural hearing impairment... |
ORPHA:443811 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet... |
ORPHA:101 |
Cog8-Cdg |
|
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Spontaneous hematomas, ... |
ORPHA:95428 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoplasia of the pons, Respiratory failure, Cerebellar hypoplasia |
ORPHA:88618 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Developmental And Epileptic Encephalopathy 109 |
|
Dyspnea, Spasticity, Myoclonus, Gait ataxia |
OMIM:620145 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Lathosterolosis |
|
Hearing impairment, Meningocele, Chiari malformation, Myoclonus, Cerebellar cortical atrophy |
ORPHA:46059 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Posteriorly rotated ears, Ataxia, Tremor, Death in adolescence, Upper limb... |
OMIM:619229 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism,... |
OMIM:618454 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:2256 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Posteriorly rotated ears, Rigidity, Dyspnea, Abnormal tragus morphology, Hypertonia, Respiratory ... |
ORPHA:2636 |
Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Abnormal autonomic nervous system physiology, Myoclonus |
ORPHA:163921 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Babinski sign, Ataxia, Spastic diplegia, Myoclonus |
OMIM:619065 |
Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Prominent scalp veins, Natal tooth, Short neck, Secundum atrial septal... |
OMIM:264090 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Spasticity |
OMIM:617284 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Increased nu... |
ORPHA:1692 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... |
OMIM:620296 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Microtia, Atresia of the external auditory canal, Low-set... |
OMIM:224690 |
Marshall-Smith Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Bilateral conductive hearing impairment, Cerebellar hypopl... |
OMIM:602535 |
Oligomeganephronia |
|
Secundum atrial septal defect, Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmat... |
ORPHA:2260 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Foot joint contracture, Short neck, Cryptorchidism, Mitral valve prola... |
ORPHA:444072 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Costello Syndrome |
|
Thickened nuchal skin fold, Ventricular septal defect, Short neck, Cryptorchidism, Mitral valve p... |
ORPHA:3071 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Short neck, Reticulocytopenia, Leukopenia, Neutrope... |
ORPHA:124 |
Early Myoclonic Encephalopathy |
|
Myoclonus |
ORPHA:1935 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Bicuspid aortic valve |
OMIM:218330 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Ventricular septal defect, Hypoplastic right heart, Short neck, Cryptorchidism, Patent ductus art... |
OMIM:616894 |
Poems Syndrome |
|
Papilledema, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pu... |
ORPHA:2905 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly, Leukocytosis, Calf muscle hype... |
OMIM:615673 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect, Death in infancy, Death in childhood |
OMIM:616901 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Lower limb hypertonia, Myoclonus, Asp... |
OMIM:301072 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Short neck, Cryptorchidism, Flexion contracture, Atrial septal defect |
OMIM:617452 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Tremor, Optic atrophy, Vocal cord paralysis, Poo... |
ORPHA:99956 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
Sotos Syndrome |
|
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Patent ductus arte... |
OMIM:117550 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Camptodactyly |
OMIM:614815 |
Spondylo-Ocular Syndrome |
|
Facial hypotonia, Ventricular septal defect, Short neck, Low posterior hairline, Webbed neck |
ORPHA:85194 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Camptodactyly of finger, Splenomegaly, Patent ductus arteriosus, Aplas... |
ORPHA:354 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Short neck, Pancreatic lymphangiect... |
ORPHA:1655 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Respiratory failure, Cerebellar cyst |
OMIM:616538 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Short neck, Cryptorchidism, Pulmonic stenosis, Webbed neck, Atrial sep... |
OMIM:610733 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Transposition of the grea... |
ORPHA:1780 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Fasciculations |
ORPHA:1143 |
Chops Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Splenomegaly, Anomalous pulm... |
OMIM:616368 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Cystic hygroma, Webbed neck,... |
OMIM:153400 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymph... |
OMIM:235510 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly, Patent ductus art... |
OMIM:269860 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Myoclonus, Dysmetria |
OMIM:619191 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Ventricular septal defect, Eosinophilia, Spina bifida, Shoulder muscle hypoplas... |
OMIM:274000 |
Jacobsen Syndrome |
|
Death in infancy, Ventricular septal defect, Spina bifida, Short neck, Cryptorchidism, Annular pa... |
ORPHA:2308 |
Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus |
OMIM:614018 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hypertonia, Hyperkinetic movements |
OMIM:236270 |
Semilobar Holoprosencephaly |
|
Central apnea, Abnormal central motor function, Sensorineural hearing impairment, Hydrocephalus, ... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Abnormal central motor function, Sensorineural hearing impairment, Hydrocephalus, ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Abnormal central motor function, Sensorineural hearing impairment, Hydrocephalus, ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Abnormal central motor function, Sensorineural hearing impairment, Hydrocephalus, ... |
ORPHA:93924 |
Hardikar Syndrome |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Hypersplen... |
OMIM:301068 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Developmental And Epileptic Encephalopathy 54 |
|
Myoclonus |
OMIM:617391 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Sh... |
OMIM:163950 |
Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism |
ORPHA:94090 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Scapular winging, Ventricular septal defect, Aortic root aneurysm, Ascendi... |
OMIM:615582 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, Lo... |
ORPHA:731 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Limb joint contracture, Ventricular septal defect, Short neck, Cryptorchidism, Atrial septal defect |
ORPHA:505237 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Incoordination, Decreased number of large peripheral myelinated nerve fi... |
OMIM:223900 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Otosclerosis, Sensorineural hearing impairment, Optic atrophy, Conductive hearing im... |
ORPHA:217085 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Elbow flexion contracture, Ascending aortic ... |
OMIM:608328 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Ventricular septal defect |
OMIM:618504 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Delayed eruption of permanent teeth, Ventricular septal defect, Ca... |
OMIM:113000 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Ventricular septal defect, Camptodactyly of finger, Thyroid agenesis, Cryptor... |
ORPHA:3047 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Short neck, Precocious puberty, Cryptorchidism, Atrial septal defect, ... |
ORPHA:254346 |
Mercury Poisoning |
|
Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Chorea, Progressive cerebellar ataxia, Upper limb spasticity, Myoclonus |
ORPHA:485350 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Patent ductus arteri... |
OMIM:135500 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis |
ORPHA:684 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Otosclerosis, Sensorineural hearing impairment, Optic atrophy, Conductive hearing im... |
ORPHA:217093 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Babinski sign, Myoclonus, Apraxia |
OMIM:618193 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Bilateral cr... |
OMIM:613457 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:60025 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Calcinosis, Decreased response to growth hormone stimulation test, Sho... |
ORPHA:94089 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Perimembranous ventricular septa... |
OMIM:158170 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... |
ORPHA:137914 |
Hutchinson-Gilford Progeria Syndrome |
|
High-frequency sensorineural hearing impairment, Prominent superficial blood vessels, Cyanosis, P... |
ORPHA:740 |
Familial Isolated Hyperparathyroidism |
|
Parathyroid adenoma, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level |
ORPHA:99879 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:29072 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Increased nuchal ... |
ORPHA:79345 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... |
OMIM:607876 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
Kinsship Syndrome |
|
Death in infancy, Spastic tetraparesis, Myoclonus, Low-set ears, Respiratory arrest, Dandy-Walker... |
OMIM:619297 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:2143 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
Eec Syndrome |
|
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... |
ORPHA:1896 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic left heart, Atri... |
ORPHA:2473 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Short neck |
OMIM:609654 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia, Camptodactyly |
OMIM:619980 |
Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Bradykinesia, Poor fi... |
ORPHA:399 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta |
ORPHA:268249 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Short neck, Congenital hypoplas... |
OMIM:105650 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Myoclonus, Intention tremor |
OMIM:610539 |
Pediatric-Onset Graves Disease |
|
Tremor, Neonatal asphyxia, Jaundice, Hyperkinetic movements, Flushing |
ORPHA:525731 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Primary hyperaldosteronism, Left ventricula... |
OMIM:615474 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Short neck, Cardiomegaly, Flexion contracture, Webbed neck, Hypertroph... |
OMIM:616897 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly o... |
ORPHA:1507 |
Parkinsonian-Pyramidal Syndrome |
|
Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradyki... |
ORPHA:171695 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,... |
OMIM:175050 |
Insulin-Like Growth Factor I, Resistance To |
|
Diabetes mellitus, Ventricular septal defect, Increased circulating insulin-like growth factor 1 ... |
OMIM:270450 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Cutis marmorata, Hemiplegia/hemiparesis, Asthma, Respiratory insufficiency, Urticaria,... |
ORPHA:183 |
C Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect, Hepatomegaly |
OMIM:211750 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus |
OMIM:254800 |
Robinow Syndrome |
|
Ventricular septal defect, Persistence of primary teeth, Cryptorchidism, Marked delay in eruption... |
ORPHA:97360 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Splenomegaly, Ventricular septal defect, Hepatomegaly |
OMIM:615630 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... |
ORPHA:2038 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... |
ORPHA:199241 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Hepatomegaly, Ventricular septal defect, Pulmonary artery stenosis, We... |
OMIM:280000 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Optic disc pallor, Chorea, Optic atrophy, Athetosis, Axonal loss, Hyperkineti... |
ORPHA:404454 |
Aase-Smith Syndrome I |
|
Death in infancy, Flexion contracture, Ventricular septal defect |
OMIM:147800 |
19P13.3 Microduplication Syndrome |
|
Precocious puberty, Ventricular septal defect, Unilateral cryptorchidism |
ORPHA:447980 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Ventricular septal defect, Short neck |
OMIM:620073 |
Mitochondrial Trifunctional Protein Deficiency |
|
Frequent falls, Babinski sign, Respiratory insufficiency, Respiratory failure |
ORPHA:746 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypomimic face |
OMIM:608572 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Death in infancy, Thymus hyperplasia, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominan... |
OMIM:619036 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Ataxia, Myoclonus, Aspiration pneumonia, Neonatal death |
OMIM:619167 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Coronary artery calcification, Aorti... |
ORPHA:56 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Restrictive ventilatory defect, Chorea, Hyperkinetic movements, Truncal ataxia |
ORPHA:369847 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Zellweger Syndrome |
|
Thickened nuchal skin fold, Death in infancy, Hepatomegaly, Ventricular septal defect, Cryptorchi... |
ORPHA:912 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Fasciculations |
ORPHA:206546 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Adrenal hypoplasia, Cryptorchidism,... |
OMIM:214100 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... |
OMIM:614609 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Pulmonary artery stenosis, Spina bifida... |
OMIM:301030 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Abnormalit... |
ORPHA:79329 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ... |
ORPHA:97355 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Spasticity, Ataxia, Myoclonus |
OMIM:620094 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
17Q24.2 Microdeletion Syndrome |
|
Progressive conductive hearing impairment, Otosclerosis, Microtia, Recurrent otitis media |
ORPHA:529962 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Patent du... |
ORPHA:96121 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cryptorchidism, Pulmonic stenosis, Camptodactyly, Atrioventr... |
OMIM:619123 |
Filippi Syndrome |
|
Cryptorchidism, Ventricular septal defect, Supernumerary nipple |
ORPHA:3255 |
Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Sensorineur... |
ORPHA:51608 |
Benign Samaritan Congenital Myopathy |
|
Abnormal respiratory system physiology, Fasciculations |
ORPHA:324581 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Myositis, Dextrocardia, S... |
ORPHA:3310 |
Isaacs Syndrome |
|
Fasciculations |
ORPHA:84142 |
Rere-Related Neurodevelopmental Syndrome |
|
Cryptorchidism, Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Ventricular septal defect, Polycystic ovaries |
ORPHA:1770 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Encephalocele, Meningocele, Ventricular septal defect |
OMIM:614424 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... |
OMIM:142900 |
Treacher Collins Syndrome 2 |
|
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia |
OMIM:613717 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flexion contracture, Ventricular septal defect |
ORPHA:79243 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Facial diplegia, Frequent falls, Fasciculations, Clumsiness |
ORPHA:521411 |
Familial Dysautonomia |
|
Orthostatic hypotension, Acrocyanosis, Optic atrophy, Ataxia |
ORPHA:1764 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis |
ORPHA:37553 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Anterior encephalocele |
OMIM:601357 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ... |
OMIM:607598 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to grow... |
ORPHA:79444 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Diastasis recti, Large placenta, Abnormal heart morphology, Umbilical ... |
ORPHA:254534 |
Cooper-Jabs Syndrome |
|
Umbilical hernia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... |
ORPHA:1488 |
Alg9-Cdg |
|
Thickened nuchal skin fold, Hepatomegaly, Torticollis, Ventricular septal defect, Hypoplasia of t... |
ORPHA:79328 |
Fabry Disease |
|
Angiokeratoma, Angiokeratoma corporis diffusum, Abnormal autonomic nervous system physiology, Fas... |
OMIM:301500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Cerebellar atrophy, Myoclonus |
OMIM:619060 |
Pineoblastoma |
|
Papilledema, Paralysis |
ORPHA:251909 |
Corticobasal Syndrome |
|
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... |
ORPHA:454887 |
Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response, Ataxia, Fasciculations, Death in childhood... |
OMIM:268800 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:615879 |
3Mc Syndrome 1 |
|
Ventricular septal defect, Diastasis recti, Supernumerary nipple, Patent ductus arteriosus, Atria... |
OMIM:257920 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Pontocerebellar Hypoplasia, Type 8 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Cerebral palsy, Posteriorly rotated ears, Sensorineural hearing impairment, Asthma, Stridor, Myoc... |
OMIM:616973 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... |
ORPHA:97261 |
Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination |
ORPHA:86909 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta |
OMIM:244450 |
Weill-Marchesani Syndrome 1 |
|
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:277600 |
Neurofibromatosis, Type I |
|
Rhabdomyosarcoma, Spina bifida, Pheochromocytoma, Renal artery stenosis, Parathyroid adenoma |
OMIM:162200 |
Doors Syndrome |
|
Respiratory distress, Small cerebellar cortex, Optic atrophy, Sirenomelia, Atresia of the externa... |
ORPHA:79500 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Kury-Isidor Syndrome |
|
Ventricular septal defect, Short neck |
OMIM:619762 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Optic nerve compression |
OMIM:259730 |
Larsen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Atrial septal defect, Spina bifida occulta, Aortic ane... |
OMIM:150250 |
Fatal Familial Insomnia |
|
Apnea, Ataxia, Abnormal autonomic nervous system physiology, Myoclonus |
OMIM:600072 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Limb hypertonia |
ORPHA:324588 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cryptorchidism, Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Apnea, Central hypoventilation, Rigidity, Respiratory insufficiency, Myoclonus |
OMIM:300673 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Abnormal pinna morphology, Pneumothorax, Respiratory failure, Low-set ears |
ORPHA:3404 |
Neu-Laxova Syndrome 1 |
|
Broad neck, Ventricular septal defect, Spina bifida, Short neck, Cryptorchidism, Patent ductus ar... |
OMIM:256520 |
Serotonin Syndrome |
|
Clonus, Tremor, Rigidity, Tachypnea, Hypertonia, Myoclonus, Abnormality of the autonomic nervous ... |
ORPHA:43116 |
Codas Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect |
ORPHA:1458 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Warburg-Cinotti Syndrome |
|
Posteriorly rotated ears, Poor wound healing, Erythema, Pneumothorax, Atresia of the external aud... |
OMIM:618175 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Babinski sign, Fasciculations |
OMIM:619733 |
Floating-Harbor Syndrome |
|
Conductive hearing impairment, Cochlear malformation, Speech apraxia, Low-set ears |
ORPHA:2044 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Ataxia, Erythema, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Ventricular septal defect, Precocious puberty, Insulin... |
ORPHA:769 |
Amyotrophic Lateral Sclerosis 18 |
|
Spasticity, Fasciculations |
OMIM:614808 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Macroglossia, Di... |
OMIM:618268 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... |
ORPHA:99106 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm... |
ORPHA:97278 |
Orofaciodigital Syndrome V |
|
Unilateral cryptorchidism, Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, A... |
ORPHA:1465 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Vertigo, Wheezing, Hypox... |
ORPHA:97214 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia |
OMIM:250620 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to grow... |
ORPHA:79443 |
Alagille Syndrome 1 |
|
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Papillary thyroid... |
OMIM:118450 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cryptorchidism, Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Redundant neck skin, Ventricular septal defect, Low posterior hairline, Camptodactyly, Atrial sep... |
OMIM:617360 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
Rift Valley Fever |
|
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis |
ORPHA:319251 |
X-Linked Intellectual Disability, Snyder Type |
|
Involuntary movements, Asymmetry of the ears, Cupped ear, Myoclonus, Low-set ears, Thickened heli... |
ORPHA:3063 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Polycythemia, Congenital diaphragmatic hernia, Cardiomeg... |
ORPHA:116 |
19Q13.11 Microdeletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Supernumerary nipple |
ORPHA:217346 |
Radio-Tartaglia Syndrome |
|
Precocious puberty, Ventricular septal defect |
OMIM:619312 |
Short Stature-Micrognathia Syndrome |
|
Skeletal muscle hypertrophy, Cryptorchidism, Ventricular septal defect |
OMIM:617164 |
Oromandibular Dystonia |
|
Blepharospasm, Torticollis, Hyperkinetic movements, Respiratory distress |
ORPHA:93958 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97283 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Hyperthyroidism, Ventricular septal defect, Decreased response to growth... |
ORPHA:488632 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Left superior vena cava draining to coronary sinus, Atrial septal defe... |
ORPHA:464738 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated... |
ORPHA:97282 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Abnormal heart valve morphology, Camptodactyly of finger, Cryptorchidism, P... |
ORPHA:1606 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Ankle flexion contracture, Cryptorchidism, Patent ductus arteriosus, P... |
ORPHA:464311 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Supernumerary nipple |
OMIM:612530 |
Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Peripheral axonal neuropathy, Respiratory ins... |
ORPHA:273 |
Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Decreased nerve conduction velocity, Vertigo, Umbilical hernia, Acrocyanosis |
ORPHA:285 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Fasciculations |
OMIM:619141 |
Behavioral Variant Of Frontotemporal Dementia |
|
Abnormality of extrapyramidal motor function, Fasciculations, Upper motor neuron dysfunction |
ORPHA:275864 |
Omodysplasia 1 |
|
Ventricular septal defect, Short neck, Cryptorchidism, Pulmonary artery stenosis, Atrial septal d... |
OMIM:258315 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Respiratory insufficiency, Tetraplegia, Respiratory failure, Myoclonus, Death in child... |
OMIM:618278 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Fasciculations |
OMIM:608030 |
Rheumatic Fever |
|
Sinusitis, Epistaxis, Chorea, Erythema, Respiratory insufficiency, Hemiballismus, Fasciculations |
ORPHA:3099 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Apnea, Vocal cord paralysis, Hyperkinetic move... |
OMIM:617799 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Myoclonus, Respiratory insufficiency |
OMIM:616158 |
Coffin-Lowry Syndrome |
|
Cutis marmorata, Sensorineural hearing impairment, Protruding ear, Acrocyanosis, Hearing impairment |
OMIM:303600 |
Duane-Radial Ray Syndrome |
|
Upper limb muscle hypoplasia, Ventricular septal defect, Facial palsy, Small thenar eminence, Pec... |
OMIM:607323 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Umbilical hernia, Respiratory failure, Large placenta |
ORPHA:254528 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Umbilical hernia, Atrial sep... |
ORPHA:1519 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Pleural effusion |
OMIM:261740 |
Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Cryptorc... |
OMIM:206900 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym... |
ORPHA:83471 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Proteus Syndrome |
|
Pulmonary embolism, Abnormal subcutaneous fat tissue distribution, Sirenomelia, Low-set ears, Mac... |
ORPHA:744 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Monosomy 22 |
|
Aplasia of the thymus, Short neck, Hypochromic microcytic anemia, Hepatosplenomegaly, Contracture... |
ORPHA:96123 |
Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Acrocyanosis, Optic atrophy, Optic neuropathy |
OMIM:259900 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Aspiration pneumonia... |
ORPHA:53351 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... |
ORPHA:391411 |
Distal Duplication 5Q |
|
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Babinski sign, Myoclonus |
OMIM:600795 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Large placenta, Splenome... |
OMIM:222470 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Myoclonus |
ORPHA:289266 |
Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis |
ORPHA:142 |
Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Hypertonia, Myoclonus, Fasciculations, Umbilical hernia, Spasticity |
ORPHA:3197 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Pericardial effusion, Rhabdomyolysis, Varicose veins... |
ORPHA:358 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Ventricular septal defect, Short neck |
OMIM:610832 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Short... |
OMIM:210710 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykinesia, Hype... |
OMIM:618877 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Cerebellar atrophy, Ataxia, Tremor, Chorea, Athetosis, Hyperkinetic movements, Tr... |
OMIM:615356 |
Abetalipoproteinemia |
|
Ataxia, Babinski sign, Dysmetria, Gait ataxia, Respiratory failure, Upper motor neuron dysfunction |
ORPHA:14 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypothyroidism,... |
ORPHA:444077 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Flexion contracture, Hyperechogenic pancreas, At... |
OMIM:605039 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Supernumerary nippl... |
OMIM:235730 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Ventricular septal defect, Anterior pituitary hypoplasia, Cryptorchi... |
ORPHA:464306 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Periodic hypokalemic paresis, Periodic paralysis |
OMIM:170390 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Interrupted inferior ... |
OMIM:618846 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... |
ORPHA:2020 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Apnea, Babinski sign, Limb tremor, Cardiorespiratory a... |
OMIM:608643 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Frank-Ter Haar Syndrome |
|
Redundant neck skin, Ventricular septal defect, Secundum atrial septal defect, Mitral valve prola... |
OMIM:249420 |
Leprosy |
|
Epistaxis, Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomi... |
ORPHA:548 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic hernia, Campto... |
ORPHA:2092 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Myoclonus, Spasticity, Cortical myoclonus |
ORPHA:168491 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:606232 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis |
OMIM:203700 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Atrial septal defect, Atrioventricular canal defect,... |
ORPHA:672 |
Gitelman Syndrome |
|
Ataxia, Paralysis |
OMIM:263800 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus |
OMIM:619780 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Angelman Syndrome |
|
Optic disc pallor, Ataxia, Tremor, Optic atrophy, Myoclonus |
ORPHA:72 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... |
OMIM:137440 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Elbow contracture, Short neck, Elbow flexion contract... |
OMIM:178110 |
Juvenile Absence Epilepsy |
|
Myoclonus |
ORPHA:1941 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
Amyotrophic Lateral Sclerosis 8 |
|
Postural tremor, Abnormal pyramidal sign, Fasciculations |
OMIM:608627 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Sudden episodic apnea, Pro... |
ORPHA:466722 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Ventricular septal defect, Mitral stenosis, Short neck, Splenomegaly, Patent ductus... |
ORPHA:955 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:604218 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97280 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... |
ORPHA:340 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti... |
OMIM:619725 |
Gaucher Disease, Type Iii |
|
Ataxia, Myoclonus, Spastic paraparesis |
OMIM:231000 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Hepatomegaly, Ventricular septal defect, Cryptorchidism, Splenomegaly, Death in... |
OMIM:614866 |
Choreoacanthocytosis |
|
Decreased number of peripheral myelinated nerve fibers, Resting tremor, Peripheral axonal neuropa... |
ORPHA:2388 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Athetoid c... |
ORPHA:522077 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypertonia, Myoclonus |
ORPHA:79096 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Ventricular septal defect |
ORPHA:1782 |
Cerebellofaciodental Syndrome |
|
Cryptorchidism, Ventricular septal defect, Short neck, Mitral valve prolapse |
OMIM:616202 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Ventricular septal defect, Facial palsy, Patent ductus arteriosus, Joint contracture... |
OMIM:300373 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Parathyroid adenoma, Hyperparathyroidism |
OMIM:145980 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
Keutel Syndrome |
|
Miscarriage, Ventricular septal defect, Pulmonary artery hypoplasia, Pulmonic stenosis, Periphera... |
OMIM:245150 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpuscular vol... |
ORPHA:261250 |
Primary Hyperoxaluria |
|
Optic disc pallor, Acrocyanosis, Optic atrophy, Cutis marmorata |
ORPHA:416 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Ventricular septal defect, Cryptorchidism, Thromboc... |
OMIM:227645 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, D... |
ORPHA:26793 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Paralysis, Spastic paraplegia, Limb ataxia, Hypertonia, Oculomotor apraxia |
ORPHA:2072 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic microc... |
OMIM:301040 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Torticollis, Limb tremor, Myoclonus, Head tremor, Hyperventilation |
ORPHA:420492 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... |
ORPHA:289 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... |
ORPHA:500095 |
Postpoliomyelitis Syndrome |
|
Hypoventilation, Fasciculations, Respiratory insufficiency |
ORPHA:2942 |
Chime Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Acute leukemia, Transposition of the great arteri... |
ORPHA:3474 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Ganglioneuroma, Horner syndrome, Myoclonus |
OMIM:256700 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:619575 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Facial hypotonia, Short neck, Cryptorchidism, Small thenar eminence, W... |
OMIM:613458 |
Hyperekplexia 1 |
|
Exaggerated startle response, Apnea, Aspiration, Hypertonia, Myoclonus, Umbilical hernia, Frequen... |
OMIM:149400 |
Whipple Disease |
|
Ataxia, Hydrocephalus, Abnormal pyramidal sign, Respiratory insufficiency, Myoclonus, Cough |
ORPHA:3452 |
Developmental And Epileptic Encephalopathy 101 |
|
Apnea, Myoclonus, Opisthotonus |
OMIM:619814 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Cryptorchidism, Ventricular septal defect, Decreased testicular size, Short neck |
ORPHA:251028 |
Simpson-Golabi-Behmel Syndrome |
|
Death in infancy, Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Supernumerary... |
ORPHA:373 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis, Dilatation of the ventricul... |
ORPHA:459070 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Cerebral hemorrhage, Precocious puberty, Cryptorchidism, Patent ductus... |
OMIM:616682 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Exaggerated startle response, Clonus, Myoclonus, Spasticity |
OMIM:618201 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Camptodactyly of finger |
ORPHA:261236 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic ... |
OMIM:222448 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Aplasia of the pectoralis maj... |
ORPHA:3138 |
Cohen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Neutropenia, Delayed puberty |
ORPHA:193 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Tremor, Fasciculations |
ORPHA:209335 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Umbilical hernia |
OMIM:102500 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Annular pancreas, Patent for... |
OMIM:616975 |
Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Hepatomegaly, Ventricular septal defect, Precocious puberty, Cryptorchidism, Pa... |
OMIM:270400 |
Hyperekplexia 3 |
|
Exaggerated startle response, Apnea, Hypertonia, Myoclonus, Respiratory arrest |
OMIM:614618 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short neck, Cryptorchidism, Atrial septal def... |
ORPHA:251014 |
Abeta Amyloidosis, Iowa Type |
|
Myoclonus |
ORPHA:324708 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral nervous system, Vascu... |
ORPHA:48435 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Ventricular septal defect, Short neck, Cryptorchidism, Stillbirth, Apl... |
OMIM:229850 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis |
ORPHA:98853 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect |
OMIM:615503 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Webbed ... |
ORPHA:1393 |
Distal Deletion 19P |
|
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Galloway-Mowat Syndrome 10 |
|
Cerebellar atrophy, Myoclonus |
OMIM:619609 |
Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Congenital hypoplastic anemia, Cryptorchid... |
OMIM:619488 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616449 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... |
OMIM:187300 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Apnea, Myoclonus, Respiratory insufficiency |
OMIM:614462 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Vocal tremor |
ORPHA:420485 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Spina bifida, Congenital diaphragmatic hernia... |
ORPHA:3380 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, Short neck, Cryptorchidism, Pulmonic stenosis, Webbed neck, Atrial sep... |
OMIM:607721 |
Hand-Foot-Genital Syndrome |
|
Miscarriage, Ventricular septal defect |
ORPHA:2438 |
Jacobsen Syndrome |
|
Ventricular septal defect, Short neck, Cryptorchidism, Flexion contracture, Atrial septal defect,... |
OMIM:147791 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Spasticity, Myoclonus, Death in childhood |
OMIM:246450 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
Brody Disease |
|
Fasciculations |
OMIM:601003 |
African Trypanosomiasis |
|
Papilledema, Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Choreoath... |
ORPHA:3385 |
Opsoclonus-Myoclonus Syndrome |
|
Ataxia, Rigidity, Vertigo, Myoclonus, Limb myoclonus |
ORPHA:1183 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Cryptorchidism, Long neck, Dysplastic tricuspid valve, Abnormal mitral... |
ORPHA:1724 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Biliary hyperplas... |
OMIM:619991 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Ventricular septal defect, Premature thelarche, Autoimmune thrombocytopenia, Cr... |
OMIM:147920 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin |
ORPHA:79404 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose v... |
OMIM:617107 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Cryptorchidism, Ventricular septal defect |
OMIM:617798 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Ventricular septal defect, Short neck |
ORPHA:251038 |
Dystonia 34, Myoclonic |
|
Torticollis, Myoclonus, Hand tremor, Head tremor |
OMIM:619724 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Optic atrophy, Cerebellar cyst, Hypoplasia of the brainstem, Myoclonus, Cerebellar... |
OMIM:253280 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema |
OMIM:613658 |
Arboleda-Tham Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Bilateral cryptorchidism, Patent ductus... |
OMIM:616268 |
Codas Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Cryptorchidism, Atrial septal defect, Atrio... |
OMIM:600373 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Short neck |
OMIM:212066 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Joint contracture of the hand, Death in childh... |
OMIM:309500 |
Neutral Lipid Storage Myopathy |
|
Sensorineural hearing impairment, Fasciculations |
ORPHA:98908 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Ventricular septal defect, Microcytic anemia, Thrombocytopenia, Splenomegaly, Bile ... |
OMIM:619525 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly,... |
OMIM:236680 |
Opitz Gbbb Syndrome |
|
Cryptorchidism, Umbilical hernia, Ventricular septal defect |
OMIM:300000 |
Scorpion Envenomation |
|
Hemifacial spasm, Ataxia, Tremor, Erythema, Tachypnea, Hyperkinetic movements, Myoclonus, Abnorma... |
ORPHA:466677 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Patent du... |
ORPHA:818 |
Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve, Cryptorchidism, Webbed neck, Camptodactyly, Joint contracture of the hand |
OMIM:309800 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Cryptorchidism, Increased mean corpuscula... |
ORPHA:33364 |
Femoral-Facial Syndrome |
|
Ventricular septal defect, Maternal diabetes, Cryptorchidism, Pulmonic stenosis, Truncus arteriosus |
OMIM:134780 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Ventricular septal defect, Congenital diaphragmatic hernia, Short neck... |
OMIM:122470 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Lymphadenopathy, Polyspl... |
OMIM:619418 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Clonus, Spastic tetraplegia, Death in adolescence, Myoclonus, Death in childhoo... |
OMIM:619055 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Short neck, Bilateral cryptorchidism, Patent ductus arteriosus, Webbed... |
ORPHA:434179 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Cerebral palsy, Myoclonus |
OMIM:617600 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... |
OMIM:192350 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Flexion contracture, Ventricular septal defect |
OMIM:619306 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Elbow flexion contracture, Webbed neck, Atri... |
OMIM:117650 |
Farber Disease |
|
Respiratory distress, Paraparesis, Respiratory insufficiency, Myoclonus, Spasticity |
ORPHA:333 |
Zttk Syndrome |
|
Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Atr... |
OMIM:617140 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Increased nuchal tr... |
ORPHA:3472 |
Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmati... |
OMIM:154400 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Apnea, Spastic hemiparesis, Jaundice, Tachypnea, Myoclonus, Spasticity |
ORPHA:20 |
Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Umbilical hernia, Ecchy... |
ORPHA:287 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Hypertonia, Upp... |
ORPHA:268810 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Decreased response to growth horm... |
ORPHA:268261 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Complete atrioventricular canal defect, Cryptorchidism, Breast aplasia... |
OMIM:617063 |
Crimean-Congo Hemorrhagic Fever |
|
Epistaxis, Vertigo, Jaundice, Hemothorax, Spontaneous hematomas, Pulmonary arterial hypertension,... |
ORPHA:99827 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Natal tooth, Ventricular septal defect, Cryptorchidism, Patent ductus ar... |
OMIM:615948 |
Amyotrophy, Monomelic |
|
Fasciculations |
OMIM:602440 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Goldberg-Shprintzen Syndrome |
|
Limb hypertonia, Ventricular septal defect, Short neck |
OMIM:609460 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Tremor, Ataxia, Myoclonus |
ORPHA:98794 |
Lafora Disease |
|
Ataxia, Severe photosensitivity, Myoclonus, Erratic myoclonus, Spasticity, Giant somatosensory ev... |
ORPHA:501 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Redundant neck skin, Pseudohypoparathyroidism, Short neck |
OMIM:617157 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Camptodactyly |
OMIM:272950 |
Sotos Syndrome |
|
Hip contracture, Ventricular septal defect, Ankle flexion contracture, Cryptorchidism, Patent duc... |
ORPHA:821 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Postural tremor, Action tremor, Gait ataxia, Myoclonus, Pleural effusion, Int... |
OMIM:254900 |
Dystonia 26, Myoclonic |
|
Blepharospasm, Torticollis, Myoclonus |
OMIM:616398 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Ventricular septal defect, Pancreatic fibrosis |
OMIM:263520 |
Oculodentodigital Dysplasia |
|
Umbilical hernia, Ventricular septal defect, Camptodactyly of finger |
ORPHA:2710 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Patent urachus, Death in childhood |
OMIM:618252 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic... |
ORPHA:2369 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Apr... |
OMIM:607822 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Delayed eruption of teeth, Ventricular septal defect, Supernumerary nipple |
ORPHA:1071 |
Nmda Receptor Encephalitis |
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Orthostatic hypotension, Involuntary movements, Orthostatic tachycardia, Rigidity, Chorea, Opisth... |
ORPHA:217253 |
Witteveen-Kolk Syndrome |
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Branchial fistula, Unilateral cryptorchidism, Decreased response to growth hormone stimulation te... |
OMIM:613406 |
Dermatomyositis |
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Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... |
ORPHA:221 |
Marden-Walker Syndrome |
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Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... |
ORPHA:2461 |
Okamoto Syndrome |
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Redundant neck skin, Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology,... |
ORPHA:2729 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... |
OMIM:301044 |
Roberts-Sc Phocomelia Syndrome |
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Accessory spleen, Ventricular septal defect, Ankle flexion contracture, Short neck, Cryptorchidis... |
OMIM:268300 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Ventricular hypertrophy, Delayed eruption of teeth, Ventricular septal defect, Mitral stenosis, T... |
OMIM:143095 |
Dystonia-Aphonia Syndrome |
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Cerebellar atrophy, Myoclonus |
ORPHA:412217 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
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Ventricular septal defect |
OMIM:250410 |
Hyperekplexia 2 |
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Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia |
ORPHA:1020 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response, Myoclonus, Spasticity |
ORPHA:309155 |
Chromosome 13Q14 Deletion Syndrome |
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Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Umbilical hernia, Patent foramen... |
OMIM:613884 |
Coffin-Siris Syndrome 1 |
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Delayed eruption of teeth, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchi... |
OMIM:135900 |
O'Sullivan-Mcleod Syndrome |
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Tremor, Fasciculations |
ORPHA:99965 |
Combined Oxidative Phosphorylation Deficiency 15 |
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Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Goodpasture Syndrome |
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Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... |
OMIM:233450 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
Tyrosinemia, Type I |
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Periodic paralysis |
OMIM:276700 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Flexion contracture, Ventricular septal defect |
OMIM:614653 |
Peters-Plus Syndrome |
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Ventricular septal defect, Bilobate gallbladder, Diastasis recti, Short neck, Cryptorchidism, Pat... |
OMIM:261540 |
Johanson-Blizzard Syndrome |
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Hepatomegaly, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cryptorchidis... |
OMIM:243800 |
Tsh-Secreting Pituitary Adenoma |
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Tremor, Periodic hypokalemic paresis |
ORPHA:91347 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Atrial sep... |
OMIM:619522 |
Pallister-Killian Syndrome |
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Delayed eruption of teeth, Ventricular septal defect, Supernumerary nipple, Short neck, Congenita... |
OMIM:601803 |
Igg4-Related Thyroid Disease |
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Vocal cord paralysis |
ORPHA:64744 |
Developmental And Epileptic Encephalopathy 100 |
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Chorea, Gait ataxia, Choreoathetosis, Myoclonus, Aspiration |
OMIM:619777 |
Parkinson Disease 1, Autosomal Dominant |
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Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus |
OMIM:168601 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Broad neck, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic... |
ORPHA:363700 |
Early Infantile Epileptic Encephalopathy |
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Cerebellar atrophy, Tremor, Choreoathetosis, Myoclonus, Episodic ataxia, Umbilical hernia, Spasti... |
ORPHA:1934 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Decreased muscle mass, Ventricular septal defect, Precocious puberty, Cryptorch... |
OMIM:194190 |
Ulnar-Mammary Syndrome |
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Ectopic posterior pituitary, Ventricular septal defect, Anterior pituitary hypoplasia, Elbow flex... |
OMIM:181450 |
Developmental And Epileptic Encephalopathy 2 |
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Myoclonus, Hyperventilation |
OMIM:300672 |
Townes-Brocks Syndrome 1 |
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Ventricular septal defect, Cryptorchidism, Atrial septal defect, Umbilical hernia, Tetralogy of F... |
OMIM:107480 |
Proboscis Lateralis |
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Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
Renal Agenesis |
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Ventricular septal defect |
ORPHA:411709 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Myoclonus |
ORPHA:251004 |
Cornelia De Lange Syndrome |
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Delayed eruption of teeth, Ventricular septal defect, Congenital diaphragmatic hernia, Short neck... |
ORPHA:199 |
Adult-Onset Dystonia-Parkinsonism |
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Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Hyperkinetic movements, Myoclonic spasms |
ORPHA:73224 |
Kufor-Rakeb Syndrome |
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Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... |
ORPHA:306674 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
Genitopatellar Syndrome |
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Delayed eruption of teeth, Hip contracture, Ventricular septal defect, Cryptorchidism, Knee flexi... |
OMIM:606170 |
Immunodeficiency 82 With Systemic Inflammation |
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Recurrent otitis media, Cholesteatoma |
OMIM:619381 |
Penile Agenesis |
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Atrial septal defect, Cryptorchidism, Ventricular septal defect, Maternal diabetes |
ORPHA:49 |
Epilepsy, Progressive Myoclonic, 10 |
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Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity |
OMIM:616640 |
Craniotubular Dysplasia, Ikegawa Type |
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Ventricular septal defect |
OMIM:619727 |
Yunis-Varon Syndrome |
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Absent nipple, Ventricular septal defect, Redundant neck skin, Cryptorchidism, Cardiomyopathy, Hy... |
OMIM:216340 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Umbilical hernia, Ventricular septal defect, Short neck |
OMIM:620330 |
Myoclonic Epilepsy Of Lafora |
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Cutaneous photosensitivity, Myoclonus, Apraxia |
OMIM:254780 |
Early-Onset Lafora Body Disease |
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Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
Athabaskan Brainstem Dysgenesis Syndrome |
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Sensorineural hearing impairment, Central hypoventilation |
OMIM:601536 |