Version: 8.0.0
Date: Tue Jan 28 2025
MEHMO syndrome
DOID:0060801
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

MEHMO 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.
Synonyms
  • mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
  • MRXS20
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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    Associated Alleles

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      Associated Models

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