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MEHMO syndrome

Disease definition

MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

ORPHA:85282

  • Synonym(s):
    • X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive or Mitochondrial inheritance 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 300148
  • UMLS: C1846278  C2931496
  • MeSH: C537451
  • GARD: 9178
  • MedDRA: -

Additional information

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