Term Name: pontocerebellar hypoplasia type 15
Synonyms: PCH15
Definition: A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21.
Ontology: Human Disease [DOID:0112326]   ( DOID:0112326 )

Relationships
is a type of: autosomal recessive disease pontocerebellar hypoplasia