Visualize Submit Comment
Metadata
ID DOID:0060277
Name pontocerebellar hypoplasia type 8
Definition A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene.
https://www.omim.org/entry/614961
Xrefs

ICD10CM:Q04.3

OMIM:614961

ORDO:324569

Subsets

DO_rare_slim

Parent Relationships

is_a pontocerebellar hypoplasia

Add an item to the term tracker