WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Disease: X-linked cerebral, cerebellar, coloboma syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3275487
Disease: X-linked cerebral, cerebellar, coloboma syndrome
X-linked cerebral, cerebellar, coloboma syndrome 		0.100 CausalMutation disease CLINVAR Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820 2012