Term Name: | Schwartz-Jampel syndrome 1 |
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Synonyms: | Aberfeld syndrome, Burton skeletal dysplasia, Burton syndrome, Catel-Hempel syndrome, Catel-Hempel type dysostosis enchondralis metaepiphysaria, myotonic chondrodystrophy, myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies, osteochondromuscular dystrophy, Schwartz-Jampel syndrome type 1, Schwartz-Jampel-Aberfeld syndrome |
Definition: | A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. |
Ontology: | Human Disease [DOID:0090005] ( DOID:0090005 ) |