MEHMO syndrome

MONDO:0010258

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.

Also known as: MEHMO, MEHMO syndrome, MEHMO syndrome, X-linked recessive, MRXS20, MRXS25, MRXSBRK, X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome, intellectual disability, X-linked, syndromic 20

29 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Sort by