Ullrich congenital muscular dystrophy 2
Findings
No curated finding names Ullrich congenital muscular dystrophy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014654), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
11 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.
- Flexion contractureHPOHP:0001371
- 3 of 3 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 3 of 3 reported patients
- Joint hypermobilityHPOHP:0001382
- 3 of 3 reported patients
- Motor delayHPOHP:0001270
- 3 of 3 reported patients
- AreflexiaHPOHP:0001284
- 2 of 3 reported patients
- High palateHPOHP:0000218
- 2 of 3 reported patients
- Neonatal hypotoniaHPOHP:0001319
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.
- COL12A1HGNC:2188
- Definitive · LiferaOmics · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
3 names
Resolves to: Ullrich congenital muscular dystrophy 2
- Also called
- COL12A1 Ullrich congenital muscular dystrophyUllrich congenital muscular dystrophy caused by mutation in COL12A1Ullrich congenital muscular dystrophy type 2