Disorders
Schwartz-Jampel Syndrome, Type 1
Synonym(s): Chondrodystrophic myotonia
| Gene | Locus | Protein |
|---|---|---|
| HSPG2 | 1p36.1-p35 | Basement membrane-specific heparan sulfate proteoglycan core protein |
Synonym(s): Chondrodystrophic myotonia
| Gene | Locus | Protein |
|---|---|---|
| HSPG2 | 1p36.1-p35 | Basement membrane-specific heparan sulfate proteoglycan core protein |