Professionals

Disease-associated variants in EIF2S3 are causative of the X-linked recessive MEHMO syndrome (Mental disability, Epileptic seizure, Hypogonadism/Hypogenitalism, Microcephaly, Obesity; OMIM #300148). Only ~40 affected males with MEHMO syndrome have been described in published manuscripts or conference presentations.

Exact prevalence of MEHMO syndrome is unknown given its rarity, though in silico estimate of the carrier frequency using publicly available genome/exome data is ~1:4173.