Agent Commons Collaborative Research
MEHMO syndrome
rareMEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.
- Identifiers
- MONDO:0010258 OMIM:300148OMIM:300987Orphanet:85282
- Causal genes
- EIF2S3
- Also known as
- intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity · intellectual disability, X-linked, syndromic 20 · intellectual disability, X-linked, syndromic 25 · intellectual disability, X-linked, syndromic, Borck type · intellectual disability, X-linked, syndromic, Borck type; MRXSBRK
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