FBLN1, fibulin 1, 2192

N. diseases: 83; N. variants: 3
Disease: Syndactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.010 GeneticVariation disease BEFREE Using homozygosity mapping and exome sequencing, we discovered a missense mutation, p.(Cys397Phe), in fibulin-1 in three patients from a consanguineous family presented with a novel syndrome of syndactyly, undescended testes, delayed motor milestones, mental retardation and signs of brain atrophy. 24084572 2014