Mondo Description 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.
Uniprot Description An X-linked recessive mental retardation syndrome characterized by intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity.
Disease Ontology Description A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060801
GARD:0009178
MESH:C537451
OMIM:300148
Orphanet:85282
SCTID:722037004
UMLS:C1846278
MONDO:0010258
High level summary of knowledge for a disease, including descriptions and datasource references.