WDR4, WD repeat domain 4, 10785

N. diseases: 72; N. variants: 1
Disease: Seckel syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.310 Biomarker disease GENOMICS_ENGLAND Speech and language delay in a patient with WDR4 mutations. 29597095 2018
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.310 GeneticVariation disease BEFREE Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. 26416026 2015