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