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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:0002540 | Inability to walk |
| HP:0000750 | Delayed speech and language development |
| HP:0002119 | Ventriculomegaly |
| HP:0000343 | Long philtrum |
| HP:0001290 | Generalized hypotonia |
| HP:0000175 | Cleft palate |
| HP:0001518 | Small for gestational age |
| HP:0000486 | Strabismus |
| HP:0008736 | Hypoplasia of penis |
| HP:0011344 | Severe global developmental delay |
