nemaline myopathy 5C, autosomal dominant
MONDO:0957284Mondo
Findings
No curated finding names nemaline myopathy 5C, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
36 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.
- Nemaline bodiesHPOHP:0003798
- 8 of 10 reported patients
- High palateHPOHP:0000218
- 6 of 11 reported patients
- AreflexiaHPOHP:0001284
- 1 of 2 reported patients
- Expressive language delayHPOHP:0002474
- 1 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 2 reported patients
- Floppy infantHPOHP:0008947
- 1 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
- Motor delayHPOHP:0001270
- 1 of 2 reported patients
- Poor head controlHPOHP:0002421
- 1 of 2 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 1 of 2 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 1 of 2 reported patients
- Slender buildHPOHP:0001533
- 1 of 2 reported patients
Show the remaining 24
- Type 1 muscle fiber predominanceHPOHP:0003803
- 5 of 10 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 5 of 11 reported patients
- Difficulty climbing stairsHPOHP:0003551
- 4 of 9 reported patients
- ScoliosisHPOHP:0002650
- 4 of 11 reported patients
- DysphagiaHPOHP:0002015
- 3 of 9 reported patients
- Gowers signHPOHP:0003391
- 3 of 9 reported patients
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.
- TNNT1HGNC:11948
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of