Term Name: | MEHMO syndrome |
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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 |
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. |
Ontology: | Human Disease [DOID:0060801] ( DOID:0060801 ) |