severe congenital nemaline myopathy
Findings
No curated finding names severe congenital nemaline myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.
Definition from the Mondo Disease Ontology (MONDO:0015735), read 2026-09-29. CC BY 4.0.
Features
43 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.
- Abnormal thorax morphologyHPOHP:0000765
- Frequent (30% to 79% of cases)
- Axial muscle weaknessHPOHP:0003327
- Frequent (30% to 79% of cases)
- Breech presentationHPOHP:0001623
- Frequent (30% to 79% of cases)
- Decreased fetal movementHPOHP:0001558
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- Facial palsyHPOHP:0010628
- Frequent (30% to 79% of cases)
- Flexion contractureHPOHP:0001371
- Frequent (30% to 79% of cases)
- HypokinesiaHPOHP:0002375
- Frequent (30% to 79% of cases)
- Increased connective tissueHPOHP:0009025
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Multiple prenatal fracturesHPOHP:0005855
- Frequent (30% to 79% of cases)
- Nemaline bodiesHPOHP:0003798
- Frequent (30% to 79% of cases)
Show the remaining 31
- Neonatal hypotoniaHPOHP:0001319
- Frequent (30% to 79% of cases)
- PolyhydramniosHPOHP:0001561
- Frequent (30% to 79% of cases)
- Respiratory distressHPOHP:0002098
- Frequent (30% to 79% of cases)
- Respiratory failureHPOHP:0002878
- Frequent (30% to 79% of cases)
- Severe muscular hypotoniaHPOHP:0006829
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
Genes
5 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.
- ACTA1HGNC:129
- Supportive · Orphanet · Autosomal recessive · 2021
- HGNC:6649HGNC:6649
- Supportive · Orphanet · Autosomal recessive · 2021
- KLHL40HGNC:30372
- Supportive · Orphanet · Autosomal recessive · 2021
- KLHL41HGNC:16905
- Supportive · Orphanet · Autosomal recessive · 2021
- NEBHGNC:7720
- Supportive · Orphanet · Autosomal recessive · 2021