RECQL4, RecQ like helicase 4, 9401

N. diseases: 249; N. variants: 73
Disease: Fetal hydantoin syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265372
Disease: Fetal hydantoin syndrome
Fetal hydantoin syndrome 		0.010 Biomarker disease BEFREE Our findings show that SRCAP mutations are the major cause of FHS and offer an explanation for the clinical overlap between FHS and RTS. 22265015 2012