Ataxia
Symptom Information:
Symptom ID: | HPO:0001251 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Quality: | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the nervous system(HPO:0000707) Abnormality of nervous system physiology(HPO:0012638) Abnormality of central motor function(HPO:0011442) Abnormality of coordination(HPO:0011443) Ataxia(HPO:0001251) MedDRA: Nervous system disorders(MedDRA:10029205) Neurological disorders NEC(MedDRA:10029305) Coordination and balance disturbances(MedDRA:10072984) Ataxia(HPO:0001251) |
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Database Frequency: | 413 / 7739 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
2q23.1 microdeletion syndrome | (Orphanet:228402) |
3-methylglutaconic aciduria type 1 | (Orphanet:67046) |
3-methylglutaconic aciduria type 3 | (Orphanet:67047) |
4-hydroxybutyric aciduria | (Orphanet:22) |
48,XXYY syndrome | (Orphanet:10) |
6-pyruvoyl-tetrahydropterin synthase deficiency | (Orphanet:13) |
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME | (OMIM:231550) |
ALG6-CDG | (Orphanet:79320) |
ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY | (OMIM:614307) |
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 | (OMIM:614820) |
ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT | (OMIM:206570) |
ARIMA SYNDROME | (OMIM:243910) |
ATAXIA WITH FASCICULATIONS | (OMIM:108700) |
ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA | (OMIM:208700) |
ATAXIA, DEAFNESS, AND CARDIOMYOPATHY | (OMIM:208750) |
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION | (OMIM:270500) |
ATAXIA-MICROCEPHALY-CATARACT SYNDROME | (OMIM:208870) |
ATAXIA-OCULOMOTOR APRAXIA 3 | (OMIM:615217) |
ATAXIA-OCULOMOTOR APRAXIA 4 | (OMIM:616267) |
ATAXIA-TELANGIECTASIA | (OMIM:208900) |
ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLYDEATH | (OMIM:208910) |
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 | (OMIM:615919) |
ATONIC-ASTATIC SYNDROME OF FOERSTER | (OMIM:209100) |
ATTRV122I amyloidosis | (Orphanet:85451) |
Abetalipoproteinemia | (Orphanet:14) |
Aceruloplasminemia | (Orphanet:48818) |
Acrodermatitis enteropathica, zinc deficiency type | (Orphanet:37) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Adrenomyeloneuropathy | (Orphanet:139399) |
Adult polyglucosan body disease | (Orphanet:206583) |
Adult-onset autosomal dominant leukodystrophy | (Orphanet:99027) |
Alexander disease | (Orphanet:58) |
Allan-Herndon-Dudley syndrome | (Orphanet:59) |
Alpers syndrome | (Orphanet:726) |
Alström syndrome | (Orphanet:64) |
Amelo-cerebro-hypohidrotic syndrome | (Orphanet:1946) |
Aniridia - cerebellar ataxia - intellectual deficit | (Orphanet:1065) |
Argininemia | (Orphanet:90) |
Argininosuccinic aciduria | (Orphanet:23) |
Arnold-Chiari malformation type II | (Orphanet:1136) |
Ataxia - hypogonadism - choroidal dystrophy | (Orphanet:1180) |
Ataxia - oculomotor apraxia type 1 | (Orphanet:1168) |
Ataxia - pancytopenia | (Orphanet:2585) |
Ataxia - tapetoretinal degeneration | (Orphanet:1178) |
Ataxia with vitamin E deficiency | (Orphanet:96) |
Ataxia-deafness-retardation syndrome | (Orphanet:1188) |
Ataxia-telangiectasia | (Orphanet:100) |
Atypical Gaucher disease due to saposin C deficiency | (Orphanet:309252) |
Autosomal dominant dopa-responsive dystonia | (Orphanet:98808) |
Autosomal dominant nonsyndromic intellectual deficit | (Orphanet:178469) |
Autosomal dominant optic atrophy and congenital deafness | (Orphanet:3212) |
Autosomal dominant optic atrophy, classic type | (Orphanet:98673) |
Autosomal dominant spastic paraplegia type 10 | (Orphanet:100991) |
Autosomal dominant spastic paraplegia type 3 | (Orphanet:100984) |
Autosomal recessive ataxia due to ubiquinone deficiency | (Orphanet:139485) |
Autosomal recessive cerebellar ataxia - blindness - deafness | (Orphanet:95433) |
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit | (Orphanet:284282) |
Autosomal recessive cerebellar ataxia - psychomotor retardation | (Orphanet:284271) |
Autosomal recessive cerebellar ataxia - saccadic intrusion | (Orphanet:95434) |
Autosomal recessive cerebelloparenchymal disorder type 3 | (Orphanet:1170) |
Autosomal recessive limb-girdle muscular dystrophy type 2S | (Orphanet:369840) |
Autosomal recessive spastic ataxia with leukoencephalopathy | (Orphanet:314603) |
Autosomal recessive spastic paraplegia type 11 | (Orphanet:2822) |
Autosomal recessive spastic paraplegia type 15 | (Orphanet:100996) |
Autosomal recessive spastic paraplegia type 26 | (Orphanet:101006) |
Autosomal recessive spastic paraplegia type 30 | (Orphanet:101010) |
Autosomal recessive spastic paraplegia type 35 | (Orphanet:171629) |
Autosomal recessive spastic paraplegia type 39 | (Orphanet:139480) |
Autosomal recessive spastic paraplegia type 44 | (Orphanet:320401) |
Autosomal recessive spastic paraplegia type 46 | (Orphanet:320391) |
Autosomal recessive spastic paraplegia type 5A | (Orphanet:100986) |
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 | (OMIM:213600) |
BROWN-VIALETTO-VAN LAERE SYNDROME 1 | (OMIM:211530) |
BROWN-VIALETTO-VAN LAERE SYNDROME 2 | (OMIM:614707) |
Bangstad syndrome | (Orphanet:1227) |
Bardet-Biedl syndrome | (Orphanet:110) |
Behr syndrome | (Orphanet:1239) |
Beta-mannosidosis | (Orphanet:118) |
Biotinidase deficiency | (Orphanet:79241) |
Bonnemann-Meinecke-Reich syndrome | (Orphanet:1261) |
Brachydactyly - nystagmus - cerebellar ataxia | (Orphanet:1246) |
Brain-lung-thyroid syndrome | (Orphanet:209905) |
CAMOS syndrome | (Orphanet:83472) |
CARASIL | (Orphanet:199354) |
CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION | (OMIM:300619) |
CELIAC DISEASE, SUSCEPTIBILITY TO, 1 | (OMIM:212750) |
CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS | (OMIM:212850) |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 | (OMIM:224050) |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2 | (OMIM:610185) |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME3 | (OMIM:613227) |
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME | (OMIM:614575) |
CEREBELLOPARENCHYMAL DISORDER II | (OMIM:213100) |
CEREBELLOPARENCHYMAL DISORDER V | (OMIM:213400) |
CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE | (OMIM:605388) |
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA,COMBINED | (OMIM:302900) |
CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE | (OMIM:214980) |
CHROMOSOME 15q11.2 DELETION SYNDROME | (OMIM:615656) |
CLN1 disease | (Orphanet:228329) |
CLN10 disease | (Orphanet:228337) |
CLN11 disease | (Orphanet:314629) |
CLN13 disease | (Orphanet:352709) |
CLN2 disease | (Orphanet:228349) |
CLN4A disease | (Orphanet:228340) |
CLN4B disease | (Orphanet:228343) |
CLN5 disease | (Orphanet:228360) |
CLN7 disease | (Orphanet:228366) |
CLN8 disease | (Orphanet:228354) |
CLN9 disease | (Orphanet:228357) |
COCKAYNE SYNDROME A | (OMIM:216400) |
COCKAYNE SYNDROME B | (OMIM:133540) |
COENZYME Q10 DEFICIENCY, PRIMARY, 1 | (OMIM:607426) |
COG4-CDG | (Orphanet:263501) |
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA | (OMIM:614306) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 | (OMIM:615917) |
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 | (OMIM:615771) |
CREST syndrome | (Orphanet:90290) |
CYCLIC VOMITING SYNDROME | (OMIM:500007) |
Carbamoylphosphate synthetase deficiency | (Orphanet:147) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Cataract - ataxia - deafness | (Orphanet:1368) |
Cerebellar ataxia - ectodermal dysplasia | (Orphanet:1174) |
Cerebellar ataxia - hypogonadism | (Orphanet:1173) |
Cerebellar ataxia, Cayman type | (Orphanet:94122) |
Cerebellar ataxia-deafness-narcolepsy syndrome | (Orphanet:314404) |
Cerebellar hypoplasia - tapetoretinal degeneration | (Orphanet:2246) |
Cerebroretinal vasculopathy | (Orphanet:3421) |
Cerebrotendinous xanthomatosis | (Orphanet:909) |
Charcot-Marie-Tooth disease type 4F | (Orphanet:99952) |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | (Orphanet:293955) |
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | (Orphanet:284324) |
Citrullinemia type I | (Orphanet:247525) |
Classic maple syrup urine disease | (Orphanet:268145) |
Coats plus syndrome | (Orphanet:313838) |
Cockayne syndrome | (Orphanet:191) |
Combined oxidative phosphorylation defect type 15 | (Orphanet:319524) |
Combined oxidative phosphorylation defect type 7 | (Orphanet:254930) |
Congenital cataracts - facial dysmorphism - neuropathy | (Orphanet:48431) |
Congenital lactic acidosis, Saguenay-Lac-St. Jean type | (Orphanet:70472) |
Congenital neuronal ceroid lipofuscinosis | (Orphanet:168486) |
Constitutional megaloblastic anemia with severe neurologic disease | (Orphanet:319651) |
Corneal-cerebellar syndrome | (Orphanet:3177) |
Cystic leukoencephalopathy without megalencephaly | (Orphanet:85136) |
Cystinuria | (Orphanet:214) |
DE SANCTIS-CACCHIONE SYNDROME | (OMIM:278800) |
DIAMINOPENTANURIA | (OMIM:222350) |
DPM1-CDG | (Orphanet:79322) |
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 | (OMIM:613990) |
Dentatorubral pallidoluysian atrophy | (Orphanet:101) |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | (Orphanet:70594) |
Dorfman-Chanarin disease | (Orphanet:98907) |
Dravet syndrome | (Orphanet:33069) |
Dyskeratosis congenita | (Orphanet:1775) |
EAST syndrome | (Orphanet:199343) |
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY | (OMIM:615924) |
EPILEPSY, PROGRESSIVE MYOCLONIC 7 | (OMIM:616187) |
EPILEPSY, PROGRESSIVE MYOCLONIC, 5 | (OMIM:613832) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 | (OMIM:615871) |
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity | (Orphanet:352654) |
Early-onset spastic ataxia-neuropathy syndrome | (Orphanet:313772) |
Encephalopathy due to GLUT1 deficiency | (Orphanet:71277) |
Endosteal sclerosis - cerebellar hypoplasia | (Orphanet:85186) |
Ethylmalonic encephalopathy | (Orphanet:51188) |
FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA | (OMIM:229310) |
FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURALDEAFNESS | (OMIM:136600) |
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 | (OMIM:615911) |
Familial amyloid polyneuropathy | (Orphanet:85447) |
Familial dementia, Danish type | (Orphanet:97346) |
Familial hemophagocytic lymphohistiocytosis | (Orphanet:540) |
Familial infantile myoclonic epilepsy | (Orphanet:352582) |
Familial or sporadic hemiplegic migraine | (Orphanet:569) |
Fatal familial insomnia | (Orphanet:466) |
Fatal infantile lactic acidosis with methylmalonic aciduria | (Orphanet:17) |
Flynn-Aird syndrome | (Orphanet:2047) |
Friedreich ataxia 1 | (OMIM:229300) |
Friedreich ataxia 2 | (OMIM:601992) |
GM1 gangliosidosis type 2 | (Orphanet:79256) |
GORDON HOLMES SYNDROME | (OMIM:212840) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Gaucher disease | (Orphanet:355) |
Gaucher disease type 2 | (Orphanet:77260) |
Gaucher disease type 3 | (Orphanet:77261) |
Gerstmann-Straussler-Scheinker syndrome | (Orphanet:356) |
Glutathione synthetase deficiency with 5-oxoprolinuria | (Orphanet:289846) |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | (Orphanet:713) |
Guanidinoacetate methyltransferase deficiency | (Orphanet:382) |
Gómez-López-Hernández syndrome | (Orphanet:1532) |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 | (OMIM:267700) |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 | (OMIM:603553) |
HERNS syndrome | (Orphanet:63261) |
HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 | (OMIM:615558) |
HYPOGLYCEMIA, LEUCINE-INDUCED | (OMIM:240800) |
HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA | (OMIM:308700) |
Hemolytic anemia due to glucophosphate isomerase deficiency | (Orphanet:712) |
Hereditary folate malabsorption | (Orphanet:90045) |
Hereditary vascular retinopathy | (Orphanet:71291) |
Hoyeraal-Hreidarsson syndrome | (Orphanet:3322) |
Huntington disease | (Orphanet:399) |
Huntington disease-like 1 | (Orphanet:157941) |
Huntington disease-like 3 | (Orphanet:157946) |
Hyperammonemia due to N-acetylglutamate synthetase deficiency | (Orphanet:927) |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency | (Orphanet:289290) |
Hyperornithinemia-hyperammonemia-homocitrullinuria | (Orphanet:415) |
Hypomyelination with atrophy of basal ganglia and cerebellum | (Orphanet:139441) |
IMMUNODEFICIENCY 23 | (OMIM:615816) |
Ichthyosis - hepatosplenomegaly - cerebellar degeneration | (Orphanet:2274) |
Infantile cerebellar-retinal degeneration | (Orphanet:313850) |
Infantile neuroaxonal dystrophy | (Orphanet:35069) |
Infantile onset spinocerebellar ataxia | (Orphanet:1186) |
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia | (Orphanet:284332) |
Intellectual deficit, X-linked - psychosis - macroorchidism | (Orphanet:3077) |
Intermittent maple syrup urine disease | (Orphanet:268173) |
Isolated ATP synthase deficiency | (Orphanet:254913) |
Isolated CoQ-cytochrome C reductase deficiency | (Orphanet:1460) |
Isolated NADH-CoQ reductase deficiency | (Orphanet:2609) |
Isolated cytochrome C oxidase deficiency | (Orphanet:254905) |
Isolated succinate-CoQ reductase deficiency | (Orphanet:3208) |
Isolated sulfite oxidase deficiency | (Orphanet:99731) |
Joubert syndrome | (Orphanet:475) |
Joubert syndrome 1 | (OMIM:213300) |
Joubert syndrome 14 | (OMIM:614424) |
Joubert syndrome 15 | (OMIM:614464) |
Joubert syndrome 17 | (OMIM:614615) |
Joubert syndrome 2 | (OMIM:608091) |
Joubert syndrome 21 | (OMIM:615636) |
Joubert syndrome 3 | (OMIM:608629) |
Joubert syndrome 4 | (OMIM:609583) |
Joubert syndrome 5 | (OMIM:610188) |
Joubert syndrome 6 | (OMIM:610688) |
Joubert syndrome 7 | (OMIM:611560) |
Joubert syndrome with hepatic defect | (Orphanet:1454) |
Joubert syndrome with ocular defect | (Orphanet:220493) |
Joubert syndrome with oculorenal defect | (Orphanet:2318) |
Joubert syndrome with renal defect | (Orphanet:220497) |
Juvenile Huntington disease | (Orphanet:248111) |
KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA | (OMIM:308750) |
KURU, SUSCEPTIBILITY TO | (OMIM:245300) |
Kearns-Sayre syndrome | (Orphanet:480) |
Knobloch syndrome | (Orphanet:1571) |
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS | (OMIM:614561) |
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE | (OMIM:615889) |
LUBS X-LINKED MENTAL RETARDATION SYNDROME | (OMIM:300260) |
Late infantile neuronal ceroid lipofuscinosis | (Orphanet:168491) |
Laurence-Moon syndrome | (Orphanet:2377) |
Leber congenital amaurosis 10 | (OMIM:611755) |
Leber hereditary optic neuropathy | (Orphanet:104) |
Leber plus disease | (Orphanet:99718) |
Leigh syndrome | (Orphanet:506) |
Lethal ataxia with deafness and optic atrophy | (Orphanet:1187) |
Leukoencephalopathy - ataxia - hypodontia - hypomyelination | (Orphanet:137639) |
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation | (Orphanet:137898) |
Lissencephaly due to TUBA1A mutation | (Orphanet:171680) |
Lissencephaly type 1 due to doublecortin gene mutation | (Orphanet:2148) |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 | (OMIM:604004) |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A | (OMIM:613925) |
MEGALENCEPHALY WITH DYSMYELINATION | (OMIM:249240) |
MELAS | (Orphanet:550) |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE | (OMIM:300861) |
MERRF | (Orphanet:551) |
METACHROMATIC LEUKODYSTROPHY | (OMIM:250100) |
MIGRAINE, FAMILIAL HEMIPLEGIC, 1 | (OMIM:141500) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 | (OMIM:615157) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 | (OMIM:615159) |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 | (OMIM:604273) |
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) | (OMIM:613662) |
MPDU1-CDG | (Orphanet:79323) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14 | (OMIM:615350) |
MYASTHENIC SYNDROME, CONGENITAL, 18 | (OMIM:616330) |
MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG | (OMIM:254800) |
Maple syrup urine disease | (Orphanet:511) |
Marinesco-Sjögren syndrome | (Orphanet:559) |
Maternally-inherited Leigh syndrome | (Orphanet:255210) |
Maternally-inherited cardiomyopathy and hearing loss | (Orphanet:1349) |
Maternally-inherited diabetes and deafness | (Orphanet:225) |
Megalencephalic leukoencephalopathy with subcortical cysts | (Orphanet:2478) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Microcephaly - seizures - developmental delay | (Orphanet:228418) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | (Orphanet:369897) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Multiple sulfatase deficiency | (Orphanet:585) |
Multiple system atrophy | (Orphanet:102) |
Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus | (Orphanet:2579) |
Myhre syndrome | (Orphanet:2588) |
Myoclonus - cerebellar ataxia - deafness | (Orphanet:2589) |
Myopathy and diabetes mellitus | (Orphanet:2596) |
NARP syndrome | (Orphanet:644) |
NEUROBLASTOMA, SUSCEPTIBILITY TONEUROBLASTOMA, SUSCEPTIBILITY TO, 1, INCLUDED | (OMIM:256700) |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A | (OMIM:256600) |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B | (OMIM:610217) |
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET | (OMIM:616263) |
NIEMANN-PICK DISEASE, TYPE C1 | (OMIM:257220) |
NIEMANN-PICK DISEASE, TYPE C2 | (OMIM:607625) |
NYSTAGMUS, HEREDITARY VERTICAL | (OMIM:164150) |
Navajo neurohepatopathy | (Orphanet:255229) |
Necrotizing encephalomyelopathy, subacute, of Leigh, adult | (OMIM:161700) |
Neuroblastoma | (Orphanet:635) |
Neurodegeneration with brain iron accumulation due to C19orf12 mutation | (Orphanet:289560) |
Neuroectodermal melanolysosomal disease | (Orphanet:33445) |
Neuroferritinopathy | (Orphanet:157846) |
Neurofibromatosis type 2 | (Orphanet:637) |
Neurologic Waardenburg-Shah syndrome | (Orphanet:163746) |
Niemann-Pick disease type C | (Orphanet:646) |
Nijmegen breakage syndrome-like disorder | (Orphanet:240760) |
Non-progressive cerebellar ataxia with intellectual deficit | (Orphanet:314647) |
OCULODENTODIGITAL DYSPLASIA | (OMIM:164200) |
OLIVOPONTOCEREBELLAR ATROPHY II, AUTOSOMAL RECESSIVE | (OMIM:258300) |
OLIVOPONTOCEREBELLAR ATROPHY V | (OMIM:164700) |
OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS | (OMIM:165200) |
Oculodentodigital dysplasia | (Orphanet:2710) |
Odontoleukodystrophy | (Orphanet:77295) |
Ornithine transcarbamylase deficiency | (Orphanet:664) |
PELIZAEUS-MERZBACHER DISEASE | (OMIM:312080) |
PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, ANDSPONGY DEGENERATION OF BRAIN | (OMIM:260970) |
PEROXISOME BIOGENESIS DISORDER 4B | (OMIM:614863) |
PEROXISOME BIOGENESIS DISORDER 6B | (OMIM:614871) |
PEROXISOME BIOGENESIS DISORDER 8B | (OMIM:614877) |
PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRALDYSFUNCTION | (OMIM:172500) |
PMM2-CDG | (Orphanet:79318) |
POLYENDOCRINE-POLYNEUROPATHY SYNDROME | (OMIM:616113) |
POLYMYOCLONUS, INFANTILE | (OMIM:263550) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A | (OMIM:607596) |
POSTERIOR COLUMN ATAXIA | (OMIM:176250) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 1 | (OMIM:157640) |
Pantothenate kinase-associated neurodegeneration | (Orphanet:157850) |
Paroxysmal exertion-induced dyskinesia | (Orphanet:98811) |
Pelizaeus-Merzbacher-like due to GJC2 mutation | (Orphanet:280282) |
Pellagra-like skin rash-neurological manifestations | (Orphanet:2837) |
Perrault Syndrome 1 | (OMIM:233400) |
Perrault Syndrome 3 | (OMIM:614129) |
Perrault Syndrome 5 | (OMIM:616138) |
Phosphoribosylpyrophosphate synthetase superactivity | (Orphanet:3222) |
Piebald trait - neurologic defects | (Orphanet:2885) |
Polyarteritis nodosa, childhood-onset | (OMIM:615688) |
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract | (Orphanet:171848) |
Pontine tegmental cap dysplasia | (Orphanet:269229) |
Pontocerebellar hypoplasia type 1 | (Orphanet:2254) |
Progressive hemifacial atrophy | (Orphanet:1214) |
Progressive myoclonic epilepsy type 6 | (Orphanet:280620) |
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia | (Orphanet:3390) |
Purine nucleoside phosphorylase deficiency | (Orphanet:760) |
Pyruvate dehydrogenase E1-alpha deficiency | (Orphanet:79243) |
Pyruvate dehydrogenase E2 deficiency | (Orphanet:79244) |
Pyruvate dehydrogenase E3 deficiency | (Orphanet:2394) |
Pyruvate dehydrogenase E3-binding protein deficiency | (Orphanet:255182) |
Pyruvate dehydrogenase deficiency | (Orphanet:765) |
RFT1-CDG | (Orphanet:244310) |
RIDDLE SYNDROME | (OMIM:611943) |
Ramsay-Hunt syndrome | (Orphanet:3020) |
Recessive mitochondrial ataxia syndrome | (Orphanet:94125) |
Refsum disease | (Orphanet:773) |
Retinal vasculopathy and cerebral leukodystrophy | (Orphanet:247691) |
Retinopathy - anemia- central nervous system anomalies | (Orphanet:3088) |
Riboflavin transporter deficiency | (Orphanet:97229) |
Ribose 5-phosphate isomerase deficiency | (OMIM:608611) |
Richards-Rundle syndrome | (Orphanet:1399) |
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS,AND DEVELOPMENTAL DELAY | (OMIM:616084) |
SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION | (OMIM:607565) |
SPINOCEREBELLAR ATAXIA 37 | (OMIM:615945) |
SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY | (OMIM:183050) |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 | (OMIM:615705) |
SPINOCEREBELLAR ATAXIA, X-LINKED 2 | (OMIM:302600) |
Saldino-Mainzer syndrome | (Orphanet:140969) |
Salla disease | (Orphanet:309334) |
Sandhoff disease | (Orphanet:796) |
Sandhoff disease, adult form | (Orphanet:309169) |
Sandhoff disease, infantile form | (Orphanet:309155) |
Sandhoff disease, juvenile form | (Orphanet:309162) |
Sialidosis type 1 | (Orphanet:812) |
Spastic paraplegia type 2 | (Orphanet:99015) |
Spinocerebellar ataxia - dysmorphism | (Orphanet:1185) |
Spinocerebellar ataxia type 1 with axonal neuropathy | (Orphanet:94124) |
Spinocerebellar ataxia type 15/16 | (Orphanet:98769) |
Spinocerebellar ataxia type 19/22 | (Orphanet:98772) |
Spinocerebellar ataxia type 25 | (Orphanet:101111) |
Spinocerebellar ataxia type 26 | (Orphanet:101112) |
Spinocerebellar ataxia type 27 | (Orphanet:98764) |
Spinocerebellar ataxia type 29 | (Orphanet:208513) |
Spinocerebellar ataxia type 3 | (Orphanet:98757) |
Spinocerebellar ataxia type 30 | (Orphanet:211017) |
Spinocerebellar ataxia type 31 | (Orphanet:217012) |
Spinocerebellar ataxia type 35 | (Orphanet:276193) |
Spinocerebellar ataxia type 36 | (Orphanet:276198) |
Spinocerebellar ataxia type 5 | (Orphanet:98766) |
Spondyloepimetaphyseal dysplasia, Geneviève type | (Orphanet:168454) |
Sporadic Leigh syndrome | (Orphanet:255199) |
TREMOR OF INTENTION, ATAXIA, AND LIPOFUSCINOSIS | (OMIM:190200) |
TRYPTOPHANURIA WITH DWARFISM | (OMIM:276100) |
Thiamine-responsive maple syrup urine disease | (Orphanet:268184) |
Thiamine-responsive megaloblastic anemia syndrome | (Orphanet:49827) |
Thyrocerebrorenal syndrome | (Orphanet:3327) |
Transcobalamin deficiency | (Orphanet:859) |
Triple A syndrome | (Orphanet:869) |
Tyrosinemia type 2 | (Orphanet:28378) |
Tyrosinemia type 3 | (Orphanet:69723) |
Unverricht-Lundborg disease | (Orphanet:308) |
Urocanic aciduria | (Orphanet:210128) |
WERNICKE-KORSAKOFF SYNDROME | (OMIM:277730) |
Waardenburg-Shah syndrome | (Orphanet:897) |
Wilson disease | (Orphanet:905) |
Wilson-Turner syndrome | (Orphanet:3459) |
Wolfram syndrome | (Orphanet:3463) |
Wolfram syndrome 1 | (OMIM:222300) |
X-linked cerebral adrenoleukodystrophy | (Orphanet:139396) |
X-linked non progressive cerebellar ataxia | (Orphanet:314978) |
X-linked progressive cerebellar ataxia | (Orphanet:1175) |
X-linked spinocerebellar ataxia type 3 | (Orphanet:85297) |
X-linked spinocerebellar ataxia type 4 | (Orphanet:85292) |
Xeroderma pigmentosum complementation group A | (Orphanet:276249) |
Xeroderma pigmentosum complementation group B | (Orphanet:276252) |
Xeroderma pigmentosum complementation group D | (Orphanet:276258) |
Xeroderma pigmentosum complementation group F | (Orphanet:276264) |
Xeroderma pigmentosum complementation group G | (Orphanet:276267) |
Xeroderma pigmentosum/Cockayne syndrome complex | (Orphanet:220295) |
[DEL] LEBER OPTIC ATROPHY | (OMIM:535000) |