benign Samaritan congenital myopathy
Findings
No curated finding names benign Samaritan congenital myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.
Definition from the Mondo Disease Ontology (MONDO:0017936), read 2026-09-29. CC BY 4.0.
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- Generalized hypotoniaHPOHP:0001290
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- HyporeflexiaHPOHP:0001265
- Very frequent (80% to 99% of cases)
- Narrow foreheadHPOHP:0000341
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Thickened skin
Show the remaining 7
- Frog-leg postureHPOHP:0031139
- Occasional (5% to 29% of cases)
- Internally nucleated skeletal muscle fibersHPOHP:0031237
- Occasional (5% to 29% of cases)
- LethargyHPOHP:0001254
- Occasional (5% to 29% of cases)
- Myopathic faciesHPOHP:0002058
- Occasional (5% to 29% of cases)
- Narrow mouthHPOHP:0000160
- Occasional (5% to 29% of cases)
- Prominent foreheadHPOHP:0011220
- Occasional (5% to 29% of cases)
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.
- RYR1HGNC:10483
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of