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Summary Literature (0)
DOID:0060801 - MEHMO syndrome

Disease Ontology 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 variation in the chromosome region Xp22.13-p21.1.

Synonyms: MRXS20, MRXS25, X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome, mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity, syndromic X-linked mental retardation 20, syndromic X-linked mental retardation 25,

Xenbase Genes : eif2s3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010258 - MEHMO syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndromic X-linked intellectual disability (is_a)