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Metadata
ID	DOID:0060272
Name	pontocerebellar hypoplasia type 3
Definition	A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene. https://pubmed.ncbi.nlm.nih.gov/19277761/
Xrefs	GARD:10708 MESH:C548072 MIM:608027 ORDO:97249 SNOMEDCT_US_2023_03_01:718609003 UMLS_CUI:C1842687
Subsets	DO_rare_slim
Parent Relationships	is_a pontocerebellar hypoplasia