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Lenz-Majewski hyperostotic dwarfism
Summary
- Synonym
-
- Lenz-Majewski syndrome
- Definition
- A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111507
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P48651 | Phosphatidylserine synthase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001376 | Limitation of joint mobility |
| HP:0001382 | Joint hypermobility |
| HP:0001582 | Redundant skin |
| HP:0001804 | Hypoplastic fingernail |
| HP:0001812 | Hyperconvex fingernails |
| HP:0002650 | Scoliosis |
| HP:0002684 | Thickened calvaria |
| HP:0002705 | High, narrow palate |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002808 | Kyphosis |
