Variant: rs797044863 

    present in Gene: ZC4H2
    present in Chromosome: X
    Position on Chromosome: 64921894
    Alleles of this Variant: G/A

rs797044863 in ZC4H2 gene and Dysmorphic features 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.

rs797044863 in ZC4H2 gene and Multiple congenital anomalies PMID 26056227 2015 ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

PMID 23623388 2013 ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

rs797044863 in ZC4H2 gene and Muscle hypotonia 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.