FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term MEHMO syndrome ID (Ontology) DOID:0060801 (Human Disease)
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.
Also Known As "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" ; "MRXS20" ; "MRXS25" (for all, see Synonyms field below)
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 Genes
 MEHMO syndrome       1
 for disease ribbon | MEHMO syndrome       1
 model of | MEHMO syndrome       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__syndromic X-linked intellectual disability__
 |__X-linked recessive disease__________________|
syndromic intellectual disability               |
 |__syndromic X-linked intellectual disability__|
                                                MEHMO syndrome  1 rec.
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Is a syndromic X-linked intellectual disability
X-linked recessive disease
Part of
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Synonyms
  • "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" EXACT
    "MRXS20" EXACT OMO:0003012
    "MRXS25" EXACT OMO:0003012
    "syndromic X-linked mental retardation 20" EXACT
    "syndromic X-linked mental retardation 25" EXACT
    "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome" EXACT
Secondary IDs
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MESH:C537451
MIM:300148
ORDO:85282
SNOMEDCT_US_2023_03_01:722037004
UMLS_CUI:C1846278