MEHMO syndrome

Rare Disease

MONDO:0010258

Also Known As

MEHMOMEHMO syndromeMEHMO syndrome, X-linked recessiveMRXS20MRXS25MRXSBRKX-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndromeintellectual disability, X-linked, syndromic 20intellectual disability, X-linked, syndromic 25intellectual disability, X-linked, syndromic, Borck typeintellectual disability, X-linked, syndromic, Borck type; MRXSBRKintellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesitymental retardation, X-linked, syndromic, Borck typemental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesitysyndromic X-linked intellectual disability 20syndromic X-linked intellectual disability 25syndromic X-linked mental retardation 20syndromic X-linked mental retardation 25X-linked MEHMO syndromemental retardation, X-linked, syndromic 20mental retardation, X-linked, syndromic 25

Definition

MEHMO syndrome is characterized 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 localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.