intermediate nemaline myopathy
MONDO:0015736Mondo
Findings
No curated finding names intermediate nemaline myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.
Definition from the Mondo Disease Ontology (MONDO:0015736), read 2026-09-29. CC BY 4.0.
Features
28 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.
- Generalized muscle weaknessHPOHP:0003324
- Very frequent (80% to 99% of cases)
- Nemaline bodiesHPOHP:0003798
- Very frequent (80% to 99% of cases)
- Severe muscular hypotoniaHPOHP:0006829
- Very frequent (80% to 99% of cases)
- Abnormal thorax morphologyHPOHP:0000765
- Frequent (30% to 79% of cases)
- Decreased fetal movementHPOHP:0001558
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Frequent (30% to 79% of cases)
- Facial palsyHPOHP:0010628
- Frequent (30% to 79% of cases)
- Flexion contractureHPOHP:0001371
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- HypokinesiaHPOHP:0002375
- Frequent (30% to 79% of cases)
- HyporeflexiaHPOHP:0001265
- Frequent (30% to 79% of cases)
Reported absent (1)
- CardiomyopathyHPOHP:0001638
Show the remaining 16
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Multiple prenatal fracturesHPOHP:0005855
- Frequent (30% to 79% of cases)
- Myopathic faciesHPOHP:0002058
- Frequent (30% to 79% of cases)
- PolyhydramniosHPOHP:0001561
- Frequent (30% to 79% of cases)
- Respiratory failureHPOHP:0002878
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
Genes
4 genes
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.