congenital myopathy 27
MONDO:0979897Mondo
Findings
No curated finding names congenital myopathy 27 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
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
20 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.
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
- Easy fatigabilityHPOHP:0003388
- 3 of 3 reported patients
- Elevated circulating CK-MB concentrationHPOHP:0032232
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 3 of 3 reported patients
- Exercise intoleranceHPOHP:0003546
- 1 of 1 reported patient
- Increased variability in muscle fiber diameterHPOHP:0003557
- 3 of 3 reported patients
- MalaiseHPOHP:0033834
- 1 of 1 reported patient
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 2 of 3 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 2 of 3 reported patients
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 1 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
- Increased endomysial connective tissueHPOHP:0100297
- 1 of 2 reported patients
Show the remaining 8
- MyalgiaHPOHP:0003326
- 1 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 3 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 3 reported patients
- Motor delayHPOHP:0001270
- 1 of 3 reported patients
- Abnormal nerve conduction velocityHPOHP:0040129
- 0 of 1 reported patient
- Muscle moundingHPOHP:0003719
- 0 of 3 reported patients