Ataxia

Symptom Information:

Symptom ID: HPO:0001251
Synonyms:
Cerebellar ataxia [HPO:0001251]
Incoordination (finding) [Orphanet:43210]
Ataxia (finding) [Orphanet:43210]
Coordination problem (finding) [Orphanet:43210]
Abnormal coordination [Orphanet:43210]
Ataxic [Orphanet:43210]
Ataxia [Orphanet:43210]
Ataxia [OMIM:Ataxia]
Cerebellar ataxia [OMIM:Cerebellar ataxia]
Ataxia/incoordination/trouble of the equilibrium [Orphanet:43210]
Coordination abnormal [Orphanet:43210]
Coordination abnormal [MedDRA:10010947]
Astasia [MedDRA:10010947]
Asynergia [MedDRA:10010947]
Coordination abnormal NOS [MedDRA:10010947]
Coordination disturbance [MedDRA:10010947]
Coordination impaired [MedDRA:10010947]
Coordination was decreased [MedDRA:10010947]
Decrease in coordination [MedDRA:10010947]
Incoordination [MedDRA:10010947]
Instability station [MedDRA:10010947]
Lack of coordination [MedDRA:10010947]
Muscular incoordination [MedDRA:10010947]
One leg standing difficult [MedDRA:10010947]
Sense of position abnormal [MedDRA:10010947]
Station abnormal [MedDRA:10010947]
Ataxia [MedDRA:10003591]
Ataxia NEC [MedDRA:10003591]
Ataxic [MedDRA:10003591]
Ataxic gait [MedDRA:10003591]
Ataxia aggravated [MedDRA:10003591]
Dystaxia [MedDRA:10003591]
Spastic ataxia [MedDRA:10003591]
Sensory ataxia [MedDRA:10003591]
Ataxia (1 patient) [OMIM:Ataxia (1 patient)]
Ataxia (CVS+) [OMIM:Ataxia (CVS+)]
Ataxia (deletion patients) [OMIM:Ataxia (deletion patients)]
Ataxia (early-onset form) [OMIM:Ataxia (early-onset form)]
Ataxia (if untreated) [OMIM:Ataxia (if untreated)]
Ataxia (in some patients) [OMIM:Ataxia (in some patients)]
Ataxia (less common) [OMIM:Ataxia (less common)]
Ataxia (often) [OMIM:Ataxia (often)]
Ataxia (type I and type II, infantile and juvenile) [OMIM:Ataxia (type I and type II, infantile and juvenile)]
Ataxia (uncommon) [OMIM:Ataxia (uncommon)]
Ataxia, (1 family) [OMIM:Ataxia, (1 family)]
Ataxia, cerebellar (in some patients) [OMIM:Ataxia, cerebellar (in some patients)]
Ataxia, cerebellar (upper and lower limbs affected) [OMIM:Ataxia, cerebellar (upper and lower limbs affected)]
Ataxic gait (in some) [OMIM:Ataxic gait (in some)]
Ataxic gait (juvenile form) [OMIM:Ataxic gait (juvenile form)]
Cerebellar ataxia (1 patient) [OMIM:Cerebellar ataxia (1 patient)]
Cerebellar ataxia (in 1 of 3 families) [OMIM:Cerebellar ataxia (in 1 of 3 families)]
Cerebellar ataxia (may be permanent in 50% of patients) [OMIM:Cerebellar ataxia (may be permanent in 50% of patients)]
Cerebellar ataxia (rare) [OMIM:Cerebellar ataxia (rare)]
Cerebellar ataxia (seen in HHS variant) [OMIM:Cerebellar ataxia (seen in HHS variant)]
Sensory ataxia (less common) [OMIM:Sensory ataxia (less common)]
Balance disorder [MedDRA:10049848]
Impairment of balance (finding) [Orphanet:43210]
Problem with balance (finding) [Orphanet:43210]
Equilibration disorder [Orphanet:43210]
Dysequilibrium [Orphanet:43210]
Cerebellar ataxia [MedDRA:10008025]
Quality:
Cross references:
HPO:0002311 "Incoordination" [Orphanet:43210]
HPO:0002066 "Gait ataxia" [Orphanet:43210]
Orphanet:43210 "Ataxia/incoordination/trouble of the equilibrium" [Orphanet:43210]
OMIM: "Ataxia" [OMIM:Ataxia]
OMIM: "Cerebellar ataxia" [OMIM:Cerebellar ataxia]
OMIM: "Ataxia (1 patient)" [OMIM:Ataxia (1 patient)]
OMIM: "Ataxia (CVS+)" [OMIM:Ataxia (CVS+)]
OMIM: "Ataxia (deletion patients)" [OMIM:Ataxia (deletion patients)]
OMIM: "Ataxia (early-onset form)" [OMIM:Ataxia (early-onset form)]
OMIM: "Ataxia (if untreated)" [OMIM:Ataxia (if untreated)]
OMIM: "Ataxia (in some patients)" [OMIM:Ataxia (in some patients)]
OMIM: "Ataxia (less common)" [OMIM:Ataxia (less common)]
OMIM: "Ataxia (often)" [OMIM:Ataxia (often)]
OMIM: "Ataxia (type I and type II, infantile and juvenile)" [OMIM:Ataxia (type I and type II, infantile and juvenile)]
OMIM: "Ataxia (uncommon)" [OMIM:Ataxia (uncommon)]
OMIM: "Ataxia, (1 family)" [OMIM:Ataxia, (1 family)]
OMIM: "Ataxia, cerebellar (in some patients)" [OMIM:Ataxia, cerebellar (in some patients)]
OMIM: "Ataxia, cerebellar (upper and lower limbs affected)" [OMIM:Ataxia, cerebellar (upper and lower limbs affected)]
OMIM: "Ataxic gait (in some)" [OMIM:Ataxic gait (in some)]
OMIM: "Ataxic gait (juvenile form)" [OMIM:Ataxic gait (juvenile form)]
OMIM: "Cerebellar ataxia (1 patient)" [OMIM:Cerebellar ataxia (1 patient)]
OMIM: "Cerebellar ataxia (in 1 of 3 families)" [OMIM:Cerebellar ataxia (in 1 of 3 families)]
OMIM: "Cerebellar ataxia (may be permanent in 50% of patients)" [OMIM:Cerebellar ataxia (may be permanent in 50% of patients)]
OMIM: "Cerebellar ataxia (rare)" [OMIM:Cerebellar ataxia (rare)]
OMIM: "Cerebellar ataxia (seen in HHS variant)" [OMIM:Cerebellar ataxia (seen in HHS variant)]
OMIM: "Sensory ataxia (less common)" [OMIM:Sensory ataxia (less common)]
UMLS:C0004134 "Ataxia" [HPO:0001251]
UMLS:C0520966 "Abnormal coordination" [Orphanet:43210]
UMLS:C0234366 "Ataxic" [Orphanet:43210]
UMLS:C0004134 "Ataxia" [Orphanet:43210]
UMLS:C0575090 "Equilibration disorder" [Orphanet:43210]
UMLS:C0281825 "Dysequilibrium" [Orphanet:43210]
Is a (Direct Parents):
HPO         Abnormality of coordination
Orphanet [DEL]Motor deficit/trouble
MedDRA Coordination and balance disturbances
HPO         Abnormality of the cerebellum
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)
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)