MEHMO syndrome
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.
MONDO:0016402
obsolete mitochondrial disease with epilepsy (obsolete MONDO:0016402)
excluded_subClassOf
MONDO:0016403
obsolete mitochondrial disease with peripheral neuropathy (obsolete MONDO:0016403)
excluded_subClassOf
MONDO:0016565
obsolete syndromic genetic obesity (obsolete MONDO:0016565)
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
is_a
MEHMO
exact
MEHMO syndrome
exact
MEHMO syndrome, X-linked recessive
exact
MRXS20
exact
MRXS25
exact
MRXSBRK
exact
X-linked MEHMO syndrome
related
X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
exact
intellectual disability, X-linked, syndromic 20
exact
intellectual disability, X-linked, syndromic 25
exact
intellectual disability, X-linked, syndromic, Borck type
exact
intellectual disability, X-linked, syndromic, Borck type; MRXSBRK
exact
intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
exact
mental retardation, X-linked, syndromic 20
related
mental retardation, X-linked, syndromic 25
related
mental retardation, X-linked, syndromic, Borck type
exact
mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
exact
syndromic X-linked intellectual disability 20
exact
syndromic X-linked intellectual disability 25
exact
SPBC17G9.09