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Metadata
ID	DOID:0060278
Name	pontocerebellar hypoplasia type 9
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. https://pubmed.ncbi.nlm.nih.gov/23911318/
Xrefs	ICD10CM:Q04.3 MIM:615809 ORDO:369920
Subsets	DO_rare_slim
Parent Relationships	is_a pontocerebellar hypoplasia