HFM1, helicase for meiosis 1, 164045

N. diseases: 39; N. variants: 6
Disease: Orofaciodigital Syndrome I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.010 GeneticVariation disease BEFREE We report three probands from two unrelated consanguineous families of South Asian origin who all carry the same rare novel homozygous variant within the dead box helicase gene DDX59 in association with features of oral-facial-digital syndrome (OFDS). 28711741 2017