congenital myopathy 21 with early respiratory failure
MONDO:0957224Mondo
Findings
No curated finding names congenital myopathy 21 with early respiratory failure 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
- Middle age onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
15 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.
- Brain atrophyHPOHP:0012444
- 1 of 1 reported patient
- Diaphragmatic weaknessHPOHP:0009113
- 4 of 4 reported patients
- DyspneaHPOHP:0002094
- 4 of 4 reported patients
- EMG: myopathic abnormalitiesHPOHP:0003458
- 3 of 3 reported patients
- Inguinal herniaHPOHP:0000023
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- Lipoid pneumoniaHPOHP:0033364
- 1 of 1 reported patient
- Thin corpus callosumHPOHP:0033725
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 3 of 4 reported patients
- Spinal rigidityHPOHP:0003306
- 3 of 4 reported patients
- Respiratory failureHPOHP:0002878
- 2 of 4 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 4 reported patients
Show the remaining 3
- Nocturnal hypoventilationHPOHP:0002877
- 1 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 1 of 5 reported patients
- Motor delayHPOHP:0001270
- 0 of 4 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.
- DNAJB4HGNC:14886
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Limited · G2P · Autosomal recessive · 2025