Variant: rs797046101 

    present in Gene: WDR45
    present in Chromosome: X
    Position on Chromosome: 49076469
    Alleles of this Variant: G/A

rs797046101 in WDR45 gene and NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

rs797046101 in WDR45 gene and X-linked cerebral, cerebellar, coloboma syndrome PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.