intermediate collagen VI-related muscular dystrophy
MONDO:0958353Mondo
Findings
No curated finding names intermediate collagen VI-related muscular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years.
Definition from the Mondo Disease Ontology (MONDO:0958353), read 2026-09-29. CC BY 4.0.