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Article

MEHMO syndrome: Review and proposed classification as an eIF2-related neuroendocrinopathy.

Molecular genetics and metabolism - 1 Dec 2025

Dang Do An N, Navid Fatemeh, Young-Baird Sara K

Abstract excerpt

MEHMO syndrome (OMIM#300148) is a rare, X-linked, multisystemic condition that predominantly involves endocrinologic and neurologic dysfunctions. Initial naming of the syndrome emphasizes the presentation of Mental disability, Epileptic seizures, Hypogonadism/Hypogenitalism, Microcephaly, and Obesity. This review provides a synthesis of the genetics, genotypes, and phenotypes of publicly available information on...

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Source

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Identifiers

PMID: 41207135
DOI: 10.1016/j.ymgme.2025.109287
PMCID: PMC12747819

Genes

EIF2S3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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