Human genes for pontocerebellar hypoplasia type 9
Pontocerebellar hypoplasia type 9 [DOID:0060278]
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.
Synonyms: pontocerebellar hypoplasia type 9, DOID:0060278