Condition: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1
rs587777744 in
TRMT10A gene and
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1
PMID 25053765 2014 TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly.
PMID 26535115 2015 Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.
PMID 26526202 2016 tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.
PMID 24204302 2013 tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.