Variant: rs1557083958 

    present in Gene: WDR45;PRAF2
    present in Chromosome: X
    Position on Chromosome: 49075363
    Alleles of this Variant: C/G;T

rs1557083958 in WDR45;PRAF2 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.

PMID 24621584 2014 De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

PMID 24368176 2014 Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.

PMID 28711740 2017 Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

PMID 25744623 2015 High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.