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Disease Ontology Browser
MEHMO syndrome (DOID:0060801)
Alliance: disease page
Synonyms: mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; MRXS20; MRXS25; syndromic X-linked mental retardation 20; syndromic X-linked mental retardation 25; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
Alt IDs: OMIM:300148, MESH:C537451, ORDO:85282, UMLS_CUI:C1846278
Definition: A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory