Ullrich congenital muscular dystrophy 1A
MONDO:0009681Mondo
Findings
No curated finding names Ullrich congenital muscular dystrophy 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
6 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.
- Joint hypermobilityHPOHP:0001382
- 12 of 12 reported patients
- Spinal rigidityHPOHP:0003306
- 15 of 15 reported patients
- ScoliosisHPOHP:0002650
- 12 of 15 reported patients
- Reduced muscle collagen VIHPOHP:0030095
- 6 of 11 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 12 reported patients
- Distal joint hypermobilityHPOHP:0020152
Genes
3 genes
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.
- COL6A1HGNC:2211
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- COL6A2HGNC:2212
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- COL6A3HGNC:2213
- Strong · Ambry Genetics · Semidominant · 2015
- · Genomics England PanelApp · Autosomal dominant · 2020
Where it sits
Other names
1 name
Resolves to: Ullrich congenital muscular dystrophy 1A
- Also called
- Ullrich congenital muscular dystrophy 1