Term Name: pontocerebellar hypoplasia type 9
Synonyms:
Definition: A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene.
Ontology: Human Disease [DOID:0060278]   ( DOID:0060278 )

Relationships
is a type of: pontocerebellar hypoplasia