MEHMO syndrome
MEHMO syndrome
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.
Also known as intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity, intellectual disability, X-linked, syndromic 20, intellectual disability, X-linked, syndromic 25, intellectual disability, X-linked, syndromic, Borck type, intellectual disability, X-linked, syndromic, Borck type; MRXSBRK, MEHMO, MEHMO syndrome, MEHMO syndrome, X-linked recessive, mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity, mental retardation, X-linked, syndromic, Borck type, MRXS20, MRXS25, MRXSBRK, syndromic X-linked intellectual disability 20, syndromic X-linked intellectual disability 25, X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome — per MONDO