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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:0001250 | Seizure |
| HP:0000252 | Microcephaly |
| HP:0001510 | Growth delay |
| HP:0000639 | Nystagmus |
| HP:0001762 | Talipes equinovarus |
| HP:0000819 | Diabetes mellitus |
| HP:0000311 | Round face |
| HP:0001276 | Hypertonia |
| HP:0000823 | Delayed puberty |
| HP:0002307 | Drooling |
