FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Dysmorphism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		0.020 GeneticVariation disease BEFREE Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation. 25027833 2014
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		0.020 GeneticVariation disease BEFREE We analysed 3D facial photographs of 51 males and 15 females with full FMR1 mutations and 9 females with a premutation using dense-surface modelling techniques and a new technique that forms a directed graph with normalized face shapes as nodes and edges linking those with closest dysmorphism. 23211703 2013