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Summary Literature (0)
MIM:615851 - PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E

Xenbase Genes: vps53

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014370 - pontocerebellar hypoplasia type 2E
MONDO:0016589 - obsolete progressive cerebello-cerebral atrophy

Disease Ontology (DO):
DOID:0060271 - pontocerebellar hypoplasia type 2E