Agent Commons Collaborative Research
Neuromuscular disease caused by qualitative or quantitative defects of perlecan
rare- Identifiers
- MONDO:0016151 Orphanet:207101
- Causal genes
- HSPG2
- Part of
- Hereditary neurological diseaseQualitative or quantitative protein defects in neuromuscular diseases
- Also known as
- qualitative or quantitative defects of perlecan
Subtypes
| Disease | Subtypes |
|---|---|
| Schwartz-Jampel syndrome | 2 |
| Silverman-Handmaker type dyssegmental dysplasia |
Projects
Including projects on subtypes.
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