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Results 1 - 10 of 15 for Cerebellar disorder
  1. DNMT1 gene 
    ... with a nervous system disorder called autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN). Features of this disorder include difficulty coordinating movements (ataxia), hearing loss caused ...
    https://medlineplus.gov/genetics/gene/dnmt1 - Genetics
  2. POLR3B gene 
    ... TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Because these disorders were later found to have the same genetic ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics
  3. POLR3A gene 
    ... TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Because these disorders were later found to have the same genetic ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  4. CASK gene 
    ... in people with CASK-related intellectual disability. This disorder affects brain development and has two main forms: a severe form called microcephaly with pontine and cerebellar hypoplasia (MICPCH), and a milder form called X- ...
    https://medlineplus.gov/genetics/gene/cask - Genetics
  5. GRN gene 
    ... the brain leads to the development of epilepsy, cerebellar ataxia, and other signs ... progressive brain disorder that can affect behavior, language, and movement. The ...
    https://medlineplus.gov/genetics/gene/grn - Genetics
  6. RELN gene 
    ... in coordinating movements is unusually small and underdeveloped (cerebellar ... disorder, a condition that affects communication and social interaction. ...
    https://medlineplus.gov/genetics/gene/reln - Genetics
  7. AMACR gene 
    ... see above) to be variations of the same disorder. Because most individuals with congenital bile acid synthesis defect type 4 do not survive ... Dick D, Horvath R, Chinnery PF. AMACR mutations cause late-onset autosomal recessive cerebellar ataxia. Neurology. 2011 May 17;76(20):1768- ...
    https://medlineplus.gov/genetics/gene/amacr - Genetics
  8. PNPLA6 gene 
    ... Central Synofzik M, Hufnagel RB, Zuchner S. PNPLA6 Disorders. 2014 Oct 9 ... chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel ...
    https://medlineplus.gov/genetics/gene/pnpla6 - Genetics
  9. ATP1A3 gene 
    ... of the ATP1A3 gene variants that cause this disorder change single amino acids in ... cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural ...
    https://medlineplus.gov/genetics/gene/atp1a3 - Genetics
  10. WASHC5 gene 
    ... 8. This condition belongs to a group of disorders called hereditary spastic ... cerebellar (brain), and cardiovascular (heart) development. People with 3C ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
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