SNUPN-related muscular dystrophy with or without multi-system involvement
Findings
No curated finding names SNUPN-related muscular dystrophy with or without multi-system involvement yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of congenital muscular dystrophy in which the cause of the disease is pathogenic variation in the SNUPN gene. The phenotype is typically characterized by a variable degree of muscle weakness, elevated serum creatinine kinase, and myopathic signs in skeletal muscle. Extra-muscular features involving the ocular, skeletal, respiratory, and central nervous system may also be present.
Definition from the Mondo Disease Ontology (MONDO:0100584), 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.
- SNUPNHGNC:14245
- Strong · ClinGen · Autosomal recessive · 2024