Term Name: MEHMO syndrome
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 )

Relationships
is a type of: syndromic X-linked intellectual disability X-linked recessive disease