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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:0001249 | Intellectual disability |
| HP:0000455 | Broad nasal tip |
| HP:0000026 | Male hypogonadism |
| HP:0001263 | Global developmental delay |
| HP:0002066 | Gait ataxia |
| HP:0000687 | Widely spaced teeth |
| HP:0002355 | Difficulty walking |
| HP:0000824 | Decreased response to growth hormone stimulation test |
| HP:0000437 | Depressed nasal tip |
| HP:0001419 | X-linked recessive inheritance |
