Ullrich congenital muscular dystrophy 1C
MONDO:0958236Mondo
Findings
No curated finding names Ullrich congenital muscular dystrophy 1C 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 · Neonatal onset
HPO, annotations 2026-09-02
Features
14 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.
- Distal joint hypermobilityHPOHP:0020152
- 5 of 5 reported patients
- Hip contractureHPOHP:0003273
- 5 of 5 reported patients
- HypotoniaHPOHP:0001252
- 5 of 5 reported patients
- Neck flexor weaknessHPOHP:0003722
- 5 of 5 reported patients
- Pelvic girdle muscle weaknessHPOHP:0003749
- 5 of 5 reported patients
- Shoulder girdle muscle weaknessHPOHP:0003547
- 5 of 5 reported patients
- Ankle contractureHPOHP:0034677
- 4 of 5 reported patients
- Delayed ability to walkHPOHP:0031936
- 4 of 5 reported patients
- Knee contractureHPOHP:0034671
- 4 of 5 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 5 reported patients
- KyphoscoliosisHPOHP:0002751
- 2 of 5 reported patients
- TorticollisHPOHP:0000473
- 2 of 5 reported patients
Show the remaining 2
- Congenital hip dislocationHPOHP:0001374
- 1 of 5 reported patients
- Hip subluxationHPOHP:0030043
- 0 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.
- COL6A3HGNC:2213
- Definitive · G2P · Autosomal recessive · 2016