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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:0000973 | Cutis laxa |
| HP:0001043 | Prominent scalp veins |
| HP:0001159 | Syndactyly |
| HP:0001187 | Hyperextensibility of the finger joints |
| HP:0001290 | Generalized hypotonia |
| HP:0001508 | Failure to thrive |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001545 | Anteriorly placed anus |
| HP:0002007 | Frontal bossing |
| HP:0002119 | Ventriculomegaly |
