congenital myopathy 25
MONDO:0975808Mondo
Findings
No curated finding names congenital myopathy 25 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
- Congenital onset
HPO, annotations 2026-09-02
Features
50 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.
- Bilateral coxa valgaHPOHP:0010665
- 1 of 1 reported patient
- Bilateral ptosisHPOHP:0001488
- 1 of 1 reported patient
- Cleft palateHPOHP:0000175
- 2 of 2 reported patients
- ConstipationHPOHP:0002019
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Delayed ability to sitHPOHP:0025336
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 3 of 3 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 4 of 4 reported patients
- Distal upper limb muscle weaknessHPOHP:0008959
- 4 of 4 reported patients
- DysarthriaHPOHP:0001260
- 2 of 2 reported patients
- DysphagiaHPOHP:0002015
- 2 of 2 reported patients
- EMG: myopathic abnormalitiesHPOHP:0003458
- 2 of 2 reported patients
Show the remaining 38
- Exercise intoleranceHPOHP:0003546
- 2 of 2 reported patients
- Facial diplegiaHPOHP:0001349
- 1 of 1 reported patient
- FatigueHPOHP:0012378
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- Generalized amyotrophyHPOHP:0003700
- 4 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.
- JPH1HGNC:14201
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2025