Variant: rs1557084120 

    present in Gene: PRAF2;WDR45
    present in Chromosome: X
    Position on Chromosome: 49075874
    Alleles of this Variant: G/A

rs1557084120 in PRAF2;WDR45 gene and Dysmorphic features PMID 24847269 2014 Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.

PMID 25263061 2014 Early manifestations of BPAN in a pediatric patient.

PMID 26173968 2016 Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.

PMID 25592411 2015 Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

PMID 28932395 2017 Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.

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 23687123 2013 β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

PMID 23435086 2013 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

PMID 20562859 2010 Network organization of the human autophagy system.

rs1557084120 in PRAF2;WDR45 gene and Muscle hypotonia PMID 24847269 2014 Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.

PMID 23687123 2013 β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

PMID 28932395 2017 Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.

PMID 26173968 2016 Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.

PMID 25592411 2015 Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

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

PMID 25263061 2014 Early manifestations of BPAN in a pediatric patient.

PMID 20562859 2010 Network organization of the human autophagy system.

PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

PMID 23435086 2013 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.