" /> Pontocerebellar hypoplasia, type 2c - CISMeF





Preferred Label : Pontocerebellar hypoplasia, type 2c;

Symbol : PCH2C;

CISMeF acronym : PCH2C;

Type : Phenotype, molecular basis known;

Description : Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tRNA splicing endonuclease, subunit 2 gene (TSEN34, 608754.0001);

Prefixed ID : #612390;

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27/07/2025


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