Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity

Other Names: MEHMO; X-linked MEHMO syndrome; Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome

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.

NIH genetic and rare disease info

• NIH info on Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity

Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity is a rare disease.

Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity Resources
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