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MEND syndrome
Summary
- Synonym
-
- male EBP disorder with neurological defects
- Definition
- A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23.
- Super Class
- X-linked recessive disease lipid metabolism disorder
External Links
- Disease Ontology
- DOID:0111865
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001305 | Dandy-Walker malformation |
| HP:0001508 | Failure to thrive |
| HP:0001627 | Abnormal heart morphology |
| HP:0001650 | Aortic valve stenosis |
| HP:0001845 | Overlapping toe |
| HP:0002079 | Hypoplasia of the corpus callosum |
