Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Schwartz-Jampel syndrome

A rare syndrome characterised by myotonia and osteoarticular abnormalities.

Micromelia

The presence of abnormally small extremities.

Total: 0

(per page)

PMID (PMCID)