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Repository for lectin-assisted multimodality data
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MIRAGE
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
- UMLS
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000472 | Long neck |
| HP:0000474 | Thickened nuchal skin fold |
| HP:0000506 | Telecanthus |
| HP:0000518 | Cataract |
| HP:0000568 | Microphthalmia |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000718 | Aggressive behavior |
| HP:0000752 | Hyperactivity |
| HP:0000960 | Sacral dimple |
| HP:0001161 | Hand polydactyly |
