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Metadata
ID	DOID:0060267
Name	pontocerebellar hypoplasia type 2A
Definition	A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. https://www.omim.org/entry/277470
Xrefs	GARD:10705 GARD:3631 MESH:C564738 OMIM:277470 ORDO:2524 UMLS_CUI:C1848526
Subsets	DO_rare_slim
Parent Relationships	is_a pontocerebellar hypoplasia type 2 is_a autosomal recessive disease