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Results 1 - 4 of 4 for Pontocerebellar atrophy
  1. Pontocerebellar hypoplasia 
    ... lived into adulthood.The two major forms of pontocerebellar hypoplasia are ... spinal muscular atrophy. Individuals with PCH1 also have very weak muscle ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  2. VRK1 gene 
    ... M, King MC, Levy-Lahad E. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the ...
    https://medlineplus.gov/genetics/gene/vrk1 - Genetics
  3. SEPSECS gene 
    ... be somewhat less severe than other forms of pontocerebellar hypoplasia. Researchers also refer to PCH2D as progressive cerebellocerebral atrophy (PCCA).The SEPSECS gene mutations that cause PCH2D ...
    https://medlineplus.gov/genetics/gene/sepsecs - Genetics
  4. EXOSC3 gene 
    ... people with a disorder of brain development called pontocerebellar hypoplasia. The major features of this condition include ... cases of a form of the disorder designated pontocerebellar hypoplasia type 1 (PCH1). When PCH1 results from ...
    https://medlineplus.gov/genetics/gene/exosc3 - Genetics