(Q9390341)
English
Schwartz-Jampel syndrome 1
autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has material basis in hypomorphic mutations in the HSPG2 gene on chromosome 1p36
- myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
- Schwartz-Jampel syndrome type 1
- Catel-Hempel syndrome
- osteochondromuscular dystrophy
- Catel-Hempel type dysostosis enchondralis metaepiphysaria
- Aberfeld syndrome
- Schwartz-Jampel-Aberfeld syndrome
- Burton skeletal dysplasia
- Burton syndrome
- myotonic chondrodystrophy
- SJS
- SCHWARTZ-JAMPEL SYNDROME, TYPE 1
- Chondrodystrophic Myotonia
- Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
- SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1
- Sja Syndrome
- SJS1
- Myotonic Myopathy, Dwarfism, Chondrodystrophy, and Ocular and Facial Abnormalities
- Schwartz-Jampel Syndrome
- Schwarz Yanperu syndrome
- Myotonic chondrodystrophy
- Schwartz-Jampel syndrome
Statements
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17 May 2019
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759.89
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C35008
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Schwartz–Jampel syndrome
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Identifiers
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Sitelinks
Wikipedia(8 entries)
- arwiki متلازمة شوارتز-جامبل
- dewiki Schwartz-Jampel-Syndrom
- elwiki Σύνδρομο Σβαρτς-Γιάμπελ
- enwiki Schwartz–Jampel syndrome
- fawiki سندرم شوارتس-جمپل
- itwiki Sindrome di Schwartz-Jampel
- plwiki Zespół Schwartza-Jampela
- simplewiki Schwartz–Jampel syndrome
Wikibooks(0 entries)
Wikinews(0 entries)
Wikiquote(0 entries)
Wikisource(0 entries)
Wikiversity(0 entries)
Wikivoyage(0 entries)
Wiktionary(0 entries)
Multilingual sites(1 entry)
- commonswiki Category:Schwartz–Jampel syndrome