" /> Pontocerebellar hypoplasia, type 4 - CISMeF





Preferred Label : Pontocerebellar hypoplasia, type 4;

Symbol : PCH4;

CISMeF acronym : PCH4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia;

Description : Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. Pontocerebellar hypoplasia type 4 (PCH4) is characterized by severe course and early lethality (Budde et al., 2008). 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 54 gene (TSEN54, 608755.0001);

Prefixed ID : #225753;

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29/07/2025


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