rs797046101, WDR45

N. diseases: 5
Disease: X-linked cerebral, cerebellar, coloboma syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
X-linked cerebral, cerebellar, coloboma syndrome
CUI: C3275487
Disease: X-linked cerebral, cerebellar, coloboma syndrome
0.700 CausalMutation CLINVAR Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820 2012