Pontocerebellar hypoplasia due to CHMP1A (charged multivesicular body protein 1A) mutation (8695869)    EXPRESSIONS (757.01)

Name Value
DISPLAYABLE TEXT Pontocerebellar hypoplasia due to CHMP1A (charged multivesicular body protein 1A) mutation
MAJOR CONCEPT File: 757, IEN: 7454592
DESIGNATION CODE
  • 3312936013
    CODING SYSTEM:   SCT
    HIERARCHY:   Disorder
TYPE SYNONYM
SCOPE DIRECTLY LINKED
FORM OTH