myopathy, congenital, progressive, with scoliosis
MONDO:0032821Mondo
Findings
No curated finding names myopathy, congenital, progressive, with scoliosis 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
27 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.
- PtosisHPOHP:0000508
- 4 of 4 reported patients
- Axial hypotoniaHPOHP:0008936
- 2 of 5 reported patients
- 4 of 5 reported patients · Infantile onset
- Gait disturbanceHPOHP:0001288
- 4 of 5 reported patients
- Generalized hypotoniaHPOHP:0001290
- 3 of 5 reported patients
- AreflexiaHPOHP:0001284
- 2 of 5 reported patients
- High palateHPOHP:0000218
- 2 of 5 reported patients
- Triangular faceHPOHP:0000325
- 2 of 5 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 3 reported patients · Male
- Congenital contractureHPOHP:0002803
- 1 of 4 reported patients
- Bell-shaped thoraxHPOHP:0001591
- 1 of 5 reported patients
- Decreased fetal movementHPOHP:0001558
- 1 of 5 reported patients
- Depressed nasal ridgeHPOHP:0000457
- 1 of 5 reported patients
Show the remaining 15
- Facial hypotoniaHPOHP:0000297
- 1 of 5 reported patients
- Gaze-evoked horizontal nystagmusHPOHP:0007979
- 1 of 5 reported patients
- Hearing impairmentHPOHP:0000365
- 1 of 5 reported patients
- HydronephrosisHPOHP:0000126
- 1 of 5 reported patients
- Low-set earsHPOHP:0000369
- 1 of 5 reported patients
- MicrognathiaHPOHP:0000347
- 1 of 5 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.
- PAX7HGNC:8621
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Illumina · Autosomal recessive · 2020
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
1 name
Resolves to: myopathy, congenital, progressive, with scoliosis
- Also called
- MYOSCO