Human genes for pontocerebellar hypoplasia type 8
Pontocerebellar hypoplasia type 8 [DOID:0060277]
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.
Synonyms: pontocerebellar hypoplasia type 8, DOID:0060277