Disease: CHROMOSOME 10p12-p11 DELETION SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225431
Disease: CHROMOSOME 10p12-p11 DELETION SYNDROME
CHROMOSOME 10p12-p11 DELETION SYNDROME 		0.300 GermlineCausalMutation disease ORPHANET WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. 26264232 2015