congenital generalized hypercontractile muscle stiffness syndrome

Findings

No curated finding names congenital generalized hypercontractile muscle stiffness syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• congenital myopathy
• disorder of development or morphogenesis
• syndromic disease