Condition: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
rs782557596 in
PRAF2;WDR45 gene and
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
PMID 30612247 2019 A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.
PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
PMID 24368176 2014 Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.
PMID 25744623 2015 High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.
rs1557084491 in
WDR45 gene and
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
PMID 24368176 2014 Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.
PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
PMID 25744623 2015 High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.
PMID 23435086 2013 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.
PMID 23687123 2013 β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
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.
PMID 23687123 2013 β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
PMID 29171013 2018 Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.
PMID 29981852 2019 Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants.
PMID 28932395 2017 Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.