Condition: MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)
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.