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MEHMO syndrome
Summary
- Synonym
-
- MRXS20
- MRXS25
- X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
- mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
- syndromic X-linked mental retardation 20
- syndromic X-linked mental retardation 25
- Definition
- 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.
- Super Class
- X-linked recessive disease syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0060801
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003241 | External genital hypoplasia |
| HP:0009748 | Large earlobe |
| HP:0002714 | Downturned corners of mouth |
| HP:0010864 | Intellectual disability, severe |
| HP:0012471 | Thick vermilion border |
| HP:0003487 | Babinski sign |
| HP:0003828 | Variable expressivity |
| HP:0008936 | Axial hypotonia |
| HP:0003561 | Birth length less than 3rd percentile |
