FMR1, FMRP translational regulator 1, 2332

N. diseases: 29; N. variants: 9
Disease: CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3275521
Disease: CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME
CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME 		0.300 ChromosomalRearrangement disease ORPHANET Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition. 19844254 2010