present in Gene: ZC4H2
present in Chromosome: X
Position on Chromosome: 64921845
Alleles of this Variant: A/T
rs1057520297 in
ZC4H2 gene and
Wieacker-Wolff syndrome
PMID 23623388 2013 ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
PMID 26056227 2015 ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.