Gait ataxia

Symptom Information:

Symptom ID: HPO:0002066
Synonyms:
Ataxic gait [HPO:0002066]
Ataxia [Orphanet:43210]
Incoordination (finding) [Orphanet:43210]
Ataxia (finding) [Orphanet:43210]
Coordination problem (finding) [Orphanet:43210]
Abnormal coordination [Orphanet:43210]
Ataxic [Orphanet:43210]
Ataxic gait [OMIM:Ataxic gait]
Gait ataxia [OMIM:Gait 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, gait [OMIM:Ataxia, gait]
Ataxic gait (in some) [OMIM:Ataxic gait (in some)]
Ataxic gait (juvenile form) [OMIM:Ataxic gait (juvenile form)]
Gait ataxia (in some patients) [OMIM:Gait ataxia (in some patients)]
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]
Quality:
Cross references:
HPO:0002311 "Incoordination" [Orphanet:43210]
HPO:0001251 "Ataxia" [Orphanet:43210]
Orphanet:43210 "Ataxia/incoordination/trouble of the equilibrium" [Orphanet:43210]
OMIM: "Ataxic gait" [OMIM:Ataxic gait]
OMIM: "Gait ataxia" [OMIM:Gait 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, gait" [OMIM:Ataxia, gait]
OMIM: "Ataxic gait (in some)" [OMIM:Ataxic gait (in some)]
OMIM: "Ataxic gait (juvenile form)" [OMIM:Ataxic gait (juvenile form)]
OMIM: "Gait ataxia (in some patients)" [OMIM:Gait ataxia (in some patients)]
OMIM: "Sensory ataxia (less common)" [OMIM:Sensory ataxia (less common)]
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):
MedDRA Coordination and balance disturbances
HPO         Ataxia
Orphanet [DEL]Motor deficit/trouble
HPO         Gait disturbance
Orphanet Ataxia
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)
                      Gait ataxia(HPO:0002066)
             Abnormality of movement(HPO:0100022)
                Gait disturbance(HPO:0001288)
                   Gait ataxia(HPO:0002066)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Neurological disorders NEC(MedDRA:10029305)
       Coordination and balance disturbances(MedDRA:10072984)
          Gait ataxia(HPO:0002066)
Database Frequency: 327 / 7739
Resource:

All diseases associated with this symptom:

15q11q13 microduplication syndrome (Orphanet:238446)
2q23.1 microdeletion syndrome (Orphanet:228402)
3-methylglutaconic aciduria type 1 (Orphanet:67046)
3-methylglutaconic aciduria type 3 (Orphanet:67047)
3q29 microdeletion syndrome (Orphanet:65286)
4-hydroxybutyric aciduria (Orphanet:22)
46,XX gonadal dysgenesis (Orphanet:243)
48,XXYY syndrome (Orphanet:10)
6-pyruvoyl-tetrahydropterin synthase deficiency (Orphanet:13)
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS ANDDIABETES MELLITUS (OMIM:616192)
Abetalipoproteinemia (Orphanet:14)
Aceruloplasminemia (Orphanet:48818)
Action myoclonus - renal failure syndrome (Orphanet:163696)
Adenylosuccinate lyase deficiency (Orphanet:46)
Adult neuronal ceroid lipofuscinosis (Orphanet:79262)
Adult polyglucosan body disease (Orphanet:206583)
Adult-onset autosomal dominant leukodystrophy (Orphanet:99027)
Adult-onset autosomal recessive cerebellar ataxia (Orphanet:284289)
Alexander disease (Orphanet:58)
Allan-Herndon-Dudley syndrome (Orphanet:59)
Alpers syndrome (Orphanet:726)
Alpha-mannosidosis (Orphanet:61)
Alveolar echinococcosis (Orphanet:284)
Angelman syndrome (Orphanet:72)
Aniridia - cerebellar ataxia - intellectual deficit (Orphanet:1065)
Argininosuccinic aciduria (Orphanet:23)
Arnold-Chiari malformation type I (Orphanet:268882)
Ataxia - hypogonadism - choroidal dystrophy (Orphanet:1180)
Ataxia - oculomotor apraxia type 1 (Orphanet:1168)
Ataxia - pancytopenia (Orphanet:2585)
Ataxia - photosensitivity - short stature (Orphanet:1184)
Ataxia - tapetoretinal degeneration (Orphanet:1178)
Ataxia with vitamin E deficiency (Orphanet:96)
Ataxia-deafness-retardation syndrome (Orphanet:1188)
Ataxia-telangiectasia (Orphanet:100)
Ataxia-telangiectasia-like disorder (Orphanet:251347)
Attenuated Chédiak-Higashi syndrome (Orphanet:352723)
Atypical Rett syndrome (Orphanet:3095)
Atypical teratoid tumor (Orphanet:99966)
Autosomal dominant cerebellar ataxia (Orphanet:99)
Autosomal dominant dopa-responsive dystonia (Orphanet:98808)
Autosomal dominant progressive external ophthalmoplegia (Orphanet:254892)
Autosomal recessive ataxia, Beauce type (Orphanet:88644)
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit (Orphanet:284282)
Autosomal recessive cerebellar ataxia - saccadic intrusion (Orphanet:95434)
Autosomal recessive cerebelloparenchymal disorder type 3 (Orphanet:1170)
Autosomal recessive dopa-responsive dystonia (Orphanet:101150)
Autosomal recessive progressive external ophthalmoplegia (Orphanet:254886)
Autosomal recessive spastic ataxia with leukoencephalopathy (Orphanet:314603)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Autosomal recessive spastic paraplegia type 49 (Orphanet:320385)
Autosomal recessive spastic paraplegia type 7 (Orphanet:99013)
BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Bangstad syndrome (Orphanet:1227)
Bardet-Biedl syndrome (Orphanet:110)
Behr syndrome (Orphanet:1239)
Behçet disease (Orphanet:117)
Benign paroxysmal tonic upgaze of childhood with ataxia (Orphanet:1179)
Biotin-responsive basal ganglia disease (Orphanet:65284)
Biotinidase deficiency (Orphanet:79241)
Brachydactyly - nystagmus - cerebellar ataxia (Orphanet:1246)
CARASIL (Orphanet:199354)
CEDNIK syndrome (Orphanet:66631)
CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS (OMIM:601338)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 (OMIM:224050)
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)
CHARGE syndrome (Orphanet:138)
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
CYCLIC VOMITING SYNDROME (OMIM:500007)
Cabezas syndrome (Orphanet:85293)
Camurati-Engelmann disease (Orphanet:1328)
Carbamoylphosphate synthetase deficiency (Orphanet:147)
Cataract - ataxia - deafness (Orphanet:1368)
Central bilateral macrogyria (Orphanet:2431)
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (Orphanet:1171)
Cerebellar ataxia - ectodermal dysplasia (Orphanet:1174)
Cerebellar ataxia - hypogonadism (Orphanet:1173)
Cerebellar ataxia, Cayman type (Orphanet:94122)
Cerebellar hypoplasia - tapetoretinal degeneration (Orphanet:2246)
Cerebellum agenesis - hydrocephaly (Orphanet:1397)
Cerebral gigantism - jaw cysts (Orphanet:2081)
Cerebro-reno-digital syndrome (Orphanet:1396)
Cerebroretinal vasculopathy (Orphanet:3421)
Charcot-Marie-Tooth disease (Orphanet:166)
Charcot-Marie-Tooth disease type 4F (Orphanet:99952)
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (Orphanet:284324)
Choreoacanthocytosis (Orphanet:2388)
Choroideremia - hypopituitarism (Orphanet:1434)
Christianson syndrome (Orphanet:85278)
Chronic intestinal pseudo-obstruction (Orphanet:2978)
Citrullinemia type I (Orphanet:247525)
Classic galactosemia (Orphanet:79239)
Classic maple syrup urine disease (Orphanet:268145)
Cleft lip/palate - deafness - sacral lipoma (Orphanet:2003)
Cochleosaccular degeneration - cataract (Orphanet:3233)
Cockayne syndrome (Orphanet:191)
Cogan syndrome (Orphanet:1467)
Combined oxidative phosphorylation defect type 15 (Orphanet:319524)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital lactic acidosis, Saguenay-Lac-St. Jean type (Orphanet:70472)
Corneal-cerebellar syndrome (Orphanet:3177)
Creutzfeldt-Jakob disease (Orphanet:204)
DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
Dysequilibrium syndrome (Orphanet:1766)
Encephalopathy due to sulfite oxidase deficiency (Orphanet:833)
Erdheim-Chester disease (Orphanet:35687)
Erythrokeratodermia - ataxia (Orphanet:1955)
Familial dysautonomia (Orphanet:1764)
Familial infantile myoclonic epilepsy (Orphanet:352582)
Familial or sporadic hemiplegic migraine (Orphanet:569)
Flynn-Aird syndrome (Orphanet:2047)
Fragile X-associated tremor/ataxia syndrome (Orphanet:93256)
Free sialic acid storage disease (Orphanet:834)
Friedreich ataxia (Orphanet:95)
Friedreich ataxia 1 (OMIM:229300)
Friedreich ataxia 2 (OMIM:601992)
GM1 gangliosidosis (Orphanet:354)
Galactosemia (Orphanet:352)
Gaucher disease (Orphanet:355)
Gaucher disease type 3 (Orphanet:77261)
Gemignani syndrome (Orphanet:2074)
Gerstmann-Straussler-Scheinker syndrome (Orphanet:356)
Giant cell arteritis (Orphanet:397)
Gingival fibromatosis-hypertrichosis syndrome (Orphanet:2026)
Griscelli disease (Orphanet:381)
Griscelli disease type 1 (Orphanet:79476)
Gómez-López-Hernández syndrome (Orphanet:1532)
HERNS syndrome (Orphanet:63261)
Hartnup syndrome (Orphanet:2116)
Hashimoto-Pritzker syndrome (Orphanet:99872)
Hereditary continuous muscle fiber activity (Orphanet:972)
Hereditary hyperekplexia (Orphanet:3197)
Hereditary spastic paraplegia (Orphanet:685)
Hereditary vascular retinopathy (Orphanet:71291)
Hodgkin lymphoma (Orphanet:98293)
Hodgkin lymphoma, classical (Orphanet:391)
Holocarboxylase synthetase deficiency (Orphanet:79242)
Homocystinuria without methylmalonic aciduria (Orphanet:622)
Hoyeraal-Hreidarsson syndrome (Orphanet:3322)
Huntington disease (Orphanet:399)
Hyperimmunoglobulinemia D with periodic fever (Orphanet:343)
Hypernychthemeral syndrome (Orphanet:73267)
Hyperornithinemia-hyperammonemia-homocitrullinuria (Orphanet:415)
Hypomyelination - hypogonadotropic hypogonadism - hypodontia (Orphanet:88637)
Ichthyosis - hepatosplenomegaly - cerebellar degeneration (Orphanet:2274)
Infantile Refsum disease (Orphanet:772)
Infantile axonal neuropathy (Orphanet:2679)
Infantile convulsions and choreoathetosis (Orphanet:31709)
Infantile onset spinocerebellar ataxia (Orphanet:1186)
Infantile symmetrical thalamic degeneration (Orphanet:3311)
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia (Orphanet:284332)
Inherited Creutzfeldt-Jakob disease (Orphanet:282166)
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures (Orphanet:1568)
Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration (Orphanet:85317)
Intellectual deficit, X-linked - seizures - psoriasis (Orphanet:3052)
Isolated cerebellar hypoplasia/agenesis (Orphanet:1398)
Joubert syndrome (Orphanet:475)
Joubert syndrome with hepatic defect (Orphanet:1454)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Joubert syndrome with renal defect (Orphanet:220497)
Juvenile Huntington disease (Orphanet:248111)
Juvenile neuronal ceroid lipofuscinosis (Orphanet:79264)
Juvenile primary lateral sclerosis (Orphanet:247604)
Kallmann syndrome (Orphanet:478)
Kearns-Sayre syndrome (Orphanet:480)
Krabbe disease (Orphanet:487)
LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY (OMIM:606183)
LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Late infantile neuronal ceroid lipofuscinosis (Orphanet:168491)
Laurence-Moon syndrome (Orphanet:2377)
Leber hereditary optic neuropathy (Orphanet:104)
Legionellosis (Orphanet:549)
Leigh syndrome (Orphanet:506)
Lethal ataxia with deafness and optic atrophy (Orphanet:1187)
Lhermitte-Duclos disease (Orphanet:65285)
MELAS (Orphanet:550)
MERRF (Orphanet:551)
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY (OMIM:253590)
Maple syrup urine disease (Orphanet:511)
Marinesco-Sjögren syndrome (Orphanet:559)
Maternally-inherited diabetes and deafness (Orphanet:225)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Metachromatic leukodystrophy (Orphanet:512)
Methylmalonic acidemia with homocystinuria, type cblF (Orphanet:79284)
Mevalonic aciduria (Orphanet:29)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Miller-Dieker syndrome (Orphanet:531)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (Orphanet:255235)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mucolipidosis type 4 (Orphanet:578)
Mucopolysaccharidosis type 3 (Orphanet:581)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Multiple sclerosis - ichthyosis - factor VIII deficiency (Orphanet:3151)
Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus (Orphanet:2579)
Myoclonus - cerebellar ataxia - deafness (Orphanet:2589)
Myopathy and diabetes mellitus (Orphanet:2596)
NARP syndrome (Orphanet:644)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Neuhauser-Eichner-Opitz syndrome (Orphanet:2672)
Neurodegeneration with brain iron accumulation due to C19orf12 mutation (Orphanet:289560)
Neuroectodermal melanolysosomal disease (Orphanet:33445)
Neuroferritinopathy (Orphanet:157846)
Neurofibromatosis type 1 (Orphanet:636)
Neurofibromatosis type 2 (Orphanet:637)
Neurologic Waardenburg-Shah syndrome (Orphanet:163746)
Neuronal ceroid lipofuscinosis (Orphanet:216)
Neuronal intranuclear inclusion disease (Orphanet:2289)
Neutral lipid storage disease (Orphanet:165)
Niemann-Pick disease type C (Orphanet:646)
Non-distal monosomy 10q (Orphanet:1581)
OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMALRECESSIVE (OMIM:258650)
Oculocerebral hypopigmentation syndrome, Cross type (Orphanet:2719)
Oculocerebral hypopigmentation syndrome, Preus type (Orphanet:2720)
Oculodentodigital dysplasia (Orphanet:2710)
Olivopontocerebellar atrophy - deafness (Orphanet:2732)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Oxoglutaricaciduria (Orphanet:31)
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATIONSYNDROME (OMIM:606721)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 1 (OMIM:157640)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 5 (OMIM:613077)
Pelizaeus-Merzbacher disease (Orphanet:702)
Pendred syndrome (Orphanet:705)
Perrault Syndrome (Orphanet:2855)
Perrault Syndrome 1 (OMIM:233400)
Perrault Syndrome 5 (OMIM:616138)
Phosphoribosylpyrophosphate synthetase superactivity (Orphanet:3222)
Piebald trait - neurologic defects (Orphanet:2885)
Piebaldism (Orphanet:2884)
Pili torti - developmental delay - neurological abnormalities (Orphanet:2891)
Pitt-Hopkins syndrome (Orphanet:2896)
Prader-Willi syndrome (Orphanet:739)
Primary dystonia, DYT4 type (Orphanet:98805)
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia (Orphanet:3390)
Pyruvate dehydrogenase E3 deficiency (Orphanet:2394)
Pyruvate dehydrogenase deficiency (Orphanet:765)
Pyruvate dehydrogenase phosphatase deficiency (Orphanet:79246)
Refsum disease (Orphanet:773)
Relapsing polychondritis (Orphanet:728)
Retinal vasculopathy and cerebral leukodystrophy (Orphanet:247691)
Rett syndrome (Orphanet:778)
Rhombencephalosynapsis (Orphanet:59315)
Riboflavin transporter deficiency (Orphanet:97229)
Richards-Rundle syndrome (Orphanet:1399)
Roussy-Lévy syndrome (Orphanet:3115)
SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Sandhoff disease (Orphanet:796)
Senior-Loken syndrome (Orphanet:3156)
Sialidosis type 1 (Orphanet:812)
Sialidosis type 2 (Orphanet:87876)
Spastic ataxia - corneal dystrophy (Orphanet:2572)
Spastic ataxia with congenital miosis (Orphanet:1182)
Spastic paraparesis - deafness (Orphanet:2815)
Spastic paraplegia - precocious puberty (Orphanet:2826)
Spastic paraplegia type 2 (Orphanet:99015)
Spectrin-associated autosomal recessive cerebellar ataxia (Orphanet:352403)
Spinocerebellar ataxia type 10 (Orphanet:98761)
Spinocerebellar ataxia type 13 (Orphanet:98768)
Spinocerebellar ataxia type 14 (Orphanet:98763)
Spinocerebellar ataxia type 15/16 (Orphanet:98769)
Spinocerebellar ataxia type 17 (Orphanet:98759)
Spinocerebellar ataxia type 19/22 (Orphanet:98772)
Spinocerebellar ataxia type 20 (Orphanet:101110)
Spinocerebellar ataxia type 21 (Orphanet:98773)
Spinocerebellar ataxia type 23 (Orphanet:101108)
Spinocerebellar ataxia type 26 (Orphanet:101112)
Spinocerebellar ataxia type 27 (Orphanet:98764)
Spinocerebellar ataxia type 28 (Orphanet:101109)
Spinocerebellar ataxia type 31 (Orphanet:217012)
Spinocerebellar ataxia type 36 (Orphanet:276198)
Spinocerebellar ataxia type 5 (Orphanet:98766)
Spinocerebellar ataxia with axonal neuropathy type 2 (Orphanet:64753)
Spontaneous periodic hypothermia (Orphanet:29822)
Sporadic Leigh syndrome (Orphanet:255199)
Stimmler syndrome (Orphanet:3199)
Syringomyelia (Orphanet:3280)
Tay-Sachs disease (Orphanet:845)
Thiamine-responsive encephalopathy (Orphanet:199348)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)
Thoracic dysplasia-hydrocephalus syndrome (Orphanet:1861)
Thyrocerebrorenal syndrome (Orphanet:3327)
Transcobalamin deficiency (Orphanet:859)
Tremor - nystagmus - duodenal ulcer (Orphanet:3350)
Triple A syndrome (Orphanet:869)
Trisomy 20p (Orphanet:261318)
Typhoid (Orphanet:99745)
Tyrosinemia type 2 (Orphanet:28378)
Usher syndrome (Orphanet:886)
Usher syndrome type 1 (Orphanet:231169)
Usher syndrome type 2 (Orphanet:231178)
Usher syndrome type 3 (Orphanet:231183)
VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Vitamin B12-unresponsive methylmalonic acidemia (Orphanet:27)
Von Hippel-Lindau disease (Orphanet:892)
Waldenström macroglobulinemia (Orphanet:33226)
Whipple disease (Orphanet:3452)
Williams syndrome (Orphanet:904)
Wilson-Turner syndrome (Orphanet:3459)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wolfram syndrome (Orphanet:3463)
Wolfram syndrome 1 (OMIM:222300)
X-linked Charcot-Marie-Tooth disease type 1 (Orphanet:101075)
X-linked Charcot-Marie-Tooth disease type 2 (Orphanet:101076)
X-linked Charcot-Marie-Tooth disease type 3 (Orphanet:101077)
X-linked Charcot-Marie-Tooth disease type 4 (Orphanet:101078)
X-linked Charcot-Marie-Tooth disease type 5 (Orphanet:99014)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked intellectual deficit - ataxia - apraxia (Orphanet:85338)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked neurodegenerative syndrome, Bertini type (Orphanet:85334)
X-linked sideroblastic anemia - ataxia (Orphanet:2802)
X-linked spinocerebellar ataxia type 3 (Orphanet:85297)
Xeroderma pigmentosum (Orphanet:910)
Xeroderma pigmentosum complementation group F (Orphanet:276264)
Xeroderma pigmentosum/Cockayne syndrome complex (Orphanet:220295)
[DEL] LEBER OPTIC ATROPHY (OMIM:535000)
[DEL] SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)