About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory