Variant: rs886040855 

    present in Gene: EIF2S3
    present in Chromosome: X
    Position on Chromosome: 24064228
    Alleles of this Variant: T/C

rs886040855 in EIF2S3 gene and MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) PMID 27333055 2016 Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.

PMID 23063529 2012 eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.

PMID 28055140 2017 EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.