Term Name: pontocerebellar hypoplasia type 8
Synonyms:
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.
Ontology: Human Disease [DOID:0060277]   ( DOID:0060277 )

Relationships
is a type of: pontocerebellar hypoplasia