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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:0002120 | Cerebral cortical atrophy |
| HP:0002342 | Intellectual disability, moderate |
| HP:0002937 | Hemivertebrae |
| HP:0002987 | Elbow flexion contracture |
| HP:0003015 | Flared metaphysis |
| HP:0003041 | Humeroradial synostosis |
| HP:0003298 | Spina bifida occulta |
| HP:0003745 | Sporadic |
| HP:0004322 | Short stature |
| HP:0004482 | Relative macrocephaly |
