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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:0002509 | Limb hypertonia |
| HP:0002808 | Kyphosis |
| HP:0003462 | Elevated 8-dehydrocholesterol |
| HP:0003465 | Elevated 8(9)-cholestenol |
| HP:0004322 | Short stature |
| HP:0004691 | 2-3 toe syndactyly |
| HP:0005590 | Spotty hypopigmentation |
| HP:0006958 | Abnormal auditory evoked potentials |
| HP:0008064 | Ichthyosis |
| HP:0009941 | Asymmetry of the mouth |
