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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:0000164 | Abnormality of the dentition |
| HP:0000171 | Microglossia |
| HP:0000252 | Microcephaly |
| HP:0000347 | Micrognathia |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000452 | Choanal stenosis |
| HP:0000885 | Broad ribs |
| HP:0000916 | Broad clavicles |
| HP:0000963 | Thin skin |
| HP:0000965 | Cutis marmorata |
