Variant: rs142515812 

    present in Gene: DOCK3
    present in Chromosome: 3
    Position on Chromosome: 51361872
    Alleles of this Variant: A/T

rs142515812 in DOCK3 gene and NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA PMID 30976111 2019 Variants in DOCK3 cause developmental delay and hypotonia.

PMID 29130632 2018 DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

PMID 28195318 2017 Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.