congenital myopathy 18
MONDO:0859514Mondo
Findings
No curated finding names congenital myopathy 18 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Childhood onset · Antenatal onset
HPO, annotations 2026-09-02
Features
12 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.
- Axial muscle weaknessHPOHP:0003327
- 11 of 11 reported patients
- High palateHPOHP:0000218
- 11 of 11 reported patients
- HypotoniaHPOHP:0001252
- 11 of 11 reported patients
- Motor delayHPOHP:0001270
- 11 of 11 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 8 of 9 reported patients
- Feeding difficultiesHPOHP:0011968
- 8 of 11 reported patients
- ScoliosisHPOHP:0002650
- 5 of 11 reported patients
- Increased endomysial connective tissueHPOHP:0100297
- 4 of 9 reported patients
- OphthalmoplegiaHPOHP:0000602
- 4 of 11 reported patients
- Fatty replacement of skeletal muscleHPOHP:0012548
- 3 of 11 reported patients
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 2 of 9 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 11 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.
- CACNA1SHGNC:1397
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023