Congenital pontocerebellar hypoplasia type 8

Congenital pontocerebellar hypoplasia type 8 (disorder)

active

Code	`718611007`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20170131

Synonyms

PCH8 - pontocerebellar hypoplasia type 8
Pontocerebellar hypoplasia due to CHMP1A (charged multivesicular body protein 1A) mutation
Pontocerebellar hypoplasia type 8

Parents (4)

85995004Autosomal recessive hereditary disorder disorder
45163000Congenital pontocerebellar hypoplasia disorder
363070008Developmental hereditary disorder disorder
363235000Hereditary disorder of nervous system disorder

Children (0)

None (leaf concept).