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Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for c11orf73-related autosomal recessive hypomyelinating leukodystrophy.
18 publications have been identified in PubMed for c11orf73-related autosomal recessive hypomyelinating leukodystrophy. Kisho has analyzed 13 by research type. Research spans Case Report / Case Series (77%), Review / Meta-Analysis (8%), and Basic Science / Preclinical (8%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 10 |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:36 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Research summaries | 1 | 8% |
Laboratory research | 1 | 8% |
New treatment approaches | 1 | 8% |
Zhou J (2026). [PMID: 41700296](https://pubmed.ncbi.nlm.nih.gov/41700296/). *Front Genet*. [Review / Meta-Analysis]
Urquiza N (2026). [PMID: 41475179](https://pubmed.ncbi.nlm.nih.gov/41475179/). *Mol Genet Metab*. [Case Report / Case Series]
Wong KM (2025). [PMID: 40590574](https://pubmed.ncbi.nlm.nih.gov/40590574/). *Mov Disord*. [Case Report / Case Series]
Ben Issa A (2025). [PMID: 39468300](https://pubmed.ncbi.nlm.nih.gov/39468300/). *J Hum Genet*. [Basic Science / Preclinical]
Mani Jacob D (2025). [PMID: 40978896](https://pubmed.ncbi.nlm.nih.gov/40978896/). *Cureus*. [Case Report / Case Series]
Bhimanadham VM (2025). [PMID: 41111653](https://pubmed.ncbi.nlm.nih.gov/41111653/). *Cureus*. [Case Report / Case Series]
Farrokhi S (2025). [PMID: 39433694](https://pubmed.ncbi.nlm.nih.gov/39433694/). *Mol Biotechnol*. [Gene Therapy / Novel Therapeutics]
Zanobio M (2025). [PMID: 40371095](https://pubmed.ncbi.nlm.nih.gov/40371095/). *Hum Mutat*. [Case Report / Case Series]
AlBathi A (2025). [PMID: 40837391](https://pubmed.ncbi.nlm.nih.gov/40837391/). *Radiol Case Rep*. [Case Report / Case Series]
Oh RY (2025). [PMID: 39848728](https://pubmed.ncbi.nlm.nih.gov/39848728/). *J Med Genet*. [Case Report / Case Series]