present in Gene: WDR62
present in Chromosome: 19
Position on Chromosome: 36099453
Alleles of this Variant: C/T
rs1006898944 in
WDR62 gene and
Muscle hypotonia
PMID 28386937 2018 A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.
PMID 21834044 2011 Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.
PMID 20890279 2010 WDR62 is associated with the spindle pole and is mutated in human microcephaly.
PMID 20729831 2010 Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
PMID 20890278 2010 Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.