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MEHMO syndrome

Synonyms
MENTAL RETARDATION, X-LINKED, SYNDROMIC 20; MENTAL RETARDATION, X-LINKED, SYNDROMIC 25; Mental retardation, X-linked, syndromic, Borck type; Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; X-linked MEHMO syndrome
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

MEHMO syndrome is a rare intellectual disability disorder that exhibits phenotypic heterogeneity and is variably characterized by mental retardation, epileptic seizures, hypogonadism with hypogenitalism, microcephaly, and obesity. Life expectancy ranges from less than 1 year to adulthood, and the condition is associated with significant morbidity and mortality (summary by Gregory et al., 2019). [from OMIM]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EIF2, EIF2G, EIF2gamma, MEHMO, MRXSBRK, eIF-2gA, eIF2gX, EIF2S3
    Summary: eukaryotic translation initiation factor 2 subunit gamma

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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