congenital myopathy 29 with contractures
MONDO:0981030Mondo
Findings
No curated finding names congenital myopathy 29 with contractures yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
75 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.
- Absent uvulaHPOHP:0010292
- 1 of 1 reported patient
- Adducted thumbHPOHP:0001181
- 7 of 7 reported patients
- AnarthriaHPOHP:0002425
- 1 of 1 reported patient
- ApneaHPOHP:0002104
- 1 of 1 reported patient
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 7 of 7 reported patients
- Bilateral talipes equinovarusHPOHP:0001776
- 1 of 1 reported patient
- Camptodactyly of fingerHPOHP:0100490
- 1 of 1 reported patient
- Congenital finger flexion contracturesHPOHP:0005879
- 1 of 1 reported patient
- Conjunctival icterusHPOHP:0032106
- 1 of 1 reported patient
- Dependency on parenteral nutritionHPOHP:0033994
- 4 of 4 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 8 of 8 reported patients
- DysphagiaHPOHP:0002015
- 4 of 4 reported patients
Show the remaining 63
- Elbow contractureHPOHP:0034391
- 1 of 1 reported patient
- Elbow flexion contractureHPOHP:0002987
- 1 of 1 reported patient
- EMG: myotonic dischargesHPOHP:0100284
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- High, narrow palateHPOHP:0002705
- 2 of 2 reported patients