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References OMIM Gene GeneReviews HGMD HGNC
last update : 26-08-2016
Symbol CBLCA
Location 4p15.2
Name cerebellocerebral atrophy, progressive
Other name(s) pontocerebellar hypoplasia 2D
Corresponding gene SEPSECS
Other symbol(s) PCH2D
Main clinical features
  • nondysmorphic profound mental retardation, progressive microcephaly, and severe spasticity, with myoclonic or generalized tonic-clonic seizures
  • at IRM progressive cerebellar atrophy followed by cerebral atrophy involving both white and gray matter
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s) . mutations resulting in disrupted selenoprotein biosynthesis in the brain of affected individuals