HFM1, helicase for meiosis 1, 164045

N. diseases: 39; N. variants: 6
Disease: Rapadilino syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849453
Disease: Rapadilino syndrome
Rapadilino syndrome 		0.010 GeneticVariation disease BEFREE Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund-Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome (RAdial hypoplasia/aplasia, PAtellar hypoplasia/aplasia, cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size [>2 SDs below the mean in height] and LImb malformation, and slender NOse and NOrmal intelligence). 15897384 2005