Gait ataxia
Symptom Information:
Symptom ID: | HPO:0002066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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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 movement(HPO:0100022) Gait disturbance(HPO:0001288) Gait ataxia(HPO:0002066) Abnormality of central motor function(HPO:0011442) Abnormality of coordination(HPO:0011443) Ataxia(HPO:0001251) 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) |
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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) |