Disease: Pontocerebellar Hypoplasia Type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		0.300 GermlineCausalMutation disease ORPHANET TSEN54 mutation in a child with pontocerebellar hypoplasia type 1. 21468723 2011