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Schwartz-Jampel syndrome 1
Summary
- Synonym
-
- Aberfeld syndrome
- Burton skeletal dysplasia
- Burton syndrome
- Catel-Hempel syndrome
- Catel-Hempel type dysostosis enchondralis metaepiphysaria
- Schwartz-Jampel syndrome type 1
- Schwartz-Jampel-Aberfeld syndrome
- myotonic chondrodystrophy
- myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
- osteochondromuscular dystrophy
- Definition
- A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0090005
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000272 | Malar flattening |
| HP:0000369 | Low-set ears |
| HP:0000643 | Blepharospasm |
| HP:0000689 | Dental malocclusion |
| HP:0000737 | Irritability |
| HP:0000739 | Anxiety |
| HP:0000767 | Pectus excavatum |
| HP:0000768 | Pectus carinatum |
| HP:0000772 | Abnormal rib morphology |
| HP:0000787 | Nephrolithiasis |
