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Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.
Features include always present findings: Flexion contracture, Joint hypermobility, Motor delay, and Increased variability in muscle fiber diameter; and common findings: Kyphoscoliosis, Facial palsy, Areflexia, and Neonatal hypotonia and others. 11 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 4 | Flexion contracture, Progressive muscle deterioration (muscular dystrophy), Neonatal hypotonia |
COL12A1 function has not been fully characterized.
Ullrich congenital muscular dystrophy 2 is associated with mutations in the COL12A1 gene on chromosome 6.
Genetic testing for COL12A1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features, 6 common features.
No clinical trials have been registered for Ullrich congenital muscular dystrophy 2.
14 publications have been identified in PubMed for Ullrich congenital muscular dystrophy 2. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (21%), and Review / Meta-Analysis (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 36% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:01 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Ullrich congenital muscular dystrophy 2
Bones and joints | 2 | Kyphoscoliosis, Joint hypermobility |
Head and neck | 2 | Facial palsy, High palate |
Pregnancy and birth | 1 | Neonatal hypotonia |
Lungs and breathing | 1 | Nocturnal hypoventilation |
Age of onset: newborn period.
Laboratory research
3 |
21% |
Research summaries | 2 | 14% |
Disease patterns and progression | 2 | 14% |
Clinical study results | 1 | 7% |
New treatment approaches | 1 | 7% |
Krstic A (2026). [PMID: 41424287](https://pubmed.ncbi.nlm.nih.gov/41424287/). *Acta Physiol (Oxf)*. [Basic Science / Preclinical]
Merlini L (2025). [PMID: 40508193](https://pubmed.ncbi.nlm.nih.gov/40508193/). *Int J Mol Sci*. [Review / Meta-Analysis]
Huang H (2025). [PMID: 39985652](https://pubmed.ncbi.nlm.nih.gov/39985652/). *Neurol Sci*. [Case Report / Case Series]
McCarty RM (2025). [PMID: 39923201](https://pubmed.ncbi.nlm.nih.gov/39923201/). *Ann Clin Transl Neurol*. [Clinical Trial Publication]
Yu S (2025). [PMID: 40530458](https://pubmed.ncbi.nlm.nih.gov/40530458/). *Oral Dis*. [Case Report / Case Series]
Fortunato F (2025). [PMID: 41154655](https://pubmed.ncbi.nlm.nih.gov/41154655/). *Biomolecules*. [Epidemiology / Natural History]
Haque AF (2025). [PMID: 40364884](https://pubmed.ncbi.nlm.nih.gov/40364884/). *Cureus*. [Case Report / Case Series]
Brull A (2024). [PMID: 38617974](https://pubmed.ncbi.nlm.nih.gov/38617974/). *Mol Ther Nucleic Acids*. [Gene Therapy / Novel Therapeutics]
Hu C (2024). [PMID: 40225934](https://pubmed.ncbi.nlm.nih.gov/40225934/). *Hum Mutat*. [Epidemiology / Natural History]
İpek R (2024). [PMID: 39129837](https://pubmed.ncbi.nlm.nih.gov/39129837/). *Mol Syndromol*. [Case Report / Case Series]