neuromuscular disease caused by qualitative or quantitative defects of perlecan

Findings

No curated finding names neuromuscular disease caused by qualitative or quantitative defects of perlecan yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Where it sits

A kind of

• hereditary neurological disease
• qualitative or quantitative protein defects in neuromuscular diseases

Narrower terms (2)

• Schwartz-Jampel syndrome
• Silverman-Handmaker type dyssegmental dysplasia

Resolves to: neuromuscular disease caused by qualitative or quantitative defects of perlecan

Also called

qualitative or quantitative defects of perlecan