Search Ontology:
Human Disease

MEHMO syndrome

Term ID
DOID:0060801
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. (2)
References
Ontology
Human Disease   ( DOID:0060801 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models