congenital myopathy, Paradas type
MONDO:0016049Mondo
Findings
No curated finding names congenital myopathy, Paradas type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.
Definition from the Mondo Disease Ontology (MONDO:0016049), read 2026-09-29. CC BY 4.0.
Genes
1 gene
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.
- DYSFHGNC:3097
- Supportive · Orphanet · Autosomal recessive · 2021