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Results 1 - 10 of 39 for Cerebellar ataxia
  1. Autosomal dominant cerebellar ataxia, deafness, and narcolepsy 
    Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a nervous system disorder with signs and symptoms that usually begin in mid-adulthood ...
    https://medlineplus.gov/...cerebellar-ataxia-deafness-and-narcolepsy - Genetics
  2. Autosomal recessive cerebellar ataxia type 1 
    Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of ... GA. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol. 2007 Jul;62(1): ...
    https://medlineplus.gov/...osomal-recessive-cerebellar-ataxia-type-1 - Genetics
  3. Gillespie syndrome 
    ... from the other copy of the gene. Aniridia, cerebellar ataxia, and mental retardation Aniridia-cerebellar ataxia-intellectual disability Aniridia-cerebellar ataxia-mental deficiency Partial ...
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
  4. Gordon Holmes syndrome 
    ... affected individuals have problems with balance and coordination (cerebellar ataxia), often leading to difficulties with activities of daily ... of RNF216 protein function causes hypogonadotropic hypogonadism or cerebellar ataxia.The PNPLA6 gene provides instructions for making a ...
    https://medlineplus.gov/genetics/condition/gordon-holmes-syndrome - Genetics
  5. VLDLR-associated cerebellar hypoplasia 
    ... signs and symptoms of the condition. Autosomal recessive cerebellar ataxia with mental retardation Autosomal recessive cerebellar hypoplasia with ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1 ...
    https://medlineplus.gov/.../vldlr-associated-cerebellar-hypoplasia - Genetics
  6. Mainzer-Saldino syndrome 
    ... of scar tissue in the liver (hepatic fibrosis); cerebellar ataxia, which is difficulty with coordination and balance arising ... Saldino disease MZSDS Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia Saldino-Mainzer dysplasia Saldino-Mainzer ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  7. CLCN2-related leukoencephalopathy 
    ... condition. CC2L Leukoencephalopathy with ataxia Leukoencephalopathy with mild cerebellar ataxia and white matter edema Leukoencephalopathy with white matter ...
    https://medlineplus.gov/.../clcn2-related-leukoencephalopathy - Genetics
  8. Boucher-Neuhäuser syndrome 
    ... condition. Ataxia-hypogonadism-choroidal dystrophy syndrome BNHS BNS Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome Chorioretinal dystrophy, ...
    https://medlineplus.gov/.../condition/boucher-neuhauser-syndrome - Genetics
  9. Ataxia with oculomotor apraxia 
    ... XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature. 2017 Jan 5;541(7635):87-91. ... I, Brice A, Durr A. New autosomal recessive cerebellar ataxias with oculomotor apraxia. Curr Neurol Neurosci Rep. 2005 ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  10. Ataxia-pancytopenia syndrome 
    ... Baranko PV, Potter NU. Ataxia-pancytopenia: syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia. ... A family with acute leukemia, hypoplastic anemia and cerebellar ataxia: association with bone marrow C-monosomy. Am J ...
    https://medlineplus.gov/.../condition/ataxia-pancytopenia-syndrome - Genetics
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