GenTIGSA Gene Database on Rare Genetic Disorders
Schwartz-Jampel Syndrome  
Disease Aliases (15)

Aberfeld syndrome

Burton skeletal dysplasia

Burton syndrome

Catel hempel syndrome

Catel-hempel syndrome

Catel-hempel type dysostosis enchondralis metaepiphysaria

Chondrodystrophic myotonia

Dysostosis enchondralis metaepiphysaria, catel-hempel type

Myotonia chondrodystrophica

Myotonic chondrodystrophy

Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities

Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies

Osteochondromuscular dystrophy

Schwartz-jampel-aberfeld syndrome

Sjs

Associated Genes (0)
 

Cross-references of Schwartz-Jampel syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations