congenital myopathy 11
MONDO:0859264Mondo
Findings
No curated finding names congenital myopathy 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
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.
- AreflexiaHPOHP:0001284
- 8 of 8 reported patients
- Gowers signHPOHP:0003391
- 5 of 5 reported patients
- HypotoniaHPOHP:0001252
- 8 of 8 reported patients
- Motor delayHPOHP:0001270
- 5 of 5 reported patients
- Waddling gaitHPOHP:0002515
- 5 of 5 reported patients
- Weak cryHPOHP:0001612
- 7 of 7 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 4 of 5 reported patients
- Feeding difficultiesHPOHP:0011968
- 5 of 7 reported patients
- Apneic episodes in infancyHPOHP:0005949
- 3 of 7 reported patients
- Breech presentationHPOHP:0001623
- 3 of 7 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 1 of 7 reported patients · Neonatal onset
- Atrial septal defectHPOHP:0001631
- 1 of 8 reported patients
Show the remaining 7
- Patent ductus arteriosusHPOHP:0001643
- 1 of 8 reported patients
- Patent foramen ovaleHPOHP:0001655
- 1 of 8 reported patients
- Abnormal activity of mitochondrial respiratory chainHPOHP:0011922
- 0 of 1 reported patient
- Abnormal circulating creatine kinase activityHPOHP:0040081
- 0 of 8 reported patients
- Decreased fetal movementHPOHP:0001558
- 0 of 8 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 0 of 8 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.
- HACD1HGNC:9639
- Definitive · G2P · Autosomal recessive · 2021