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Features include rarely findings: Hearing loss (hearing impairment) and Blindness. 14 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 6 | Brain shrinkage (cerebral atrophy), Absent speech, Dystonia |
Muscles |
UFM1 function has not been fully characterized.
Leukodystrophy, hypomyelinating, 14 is associated with mutations in the UFM1 gene on chromosome 13.
Genetic testing for UFM1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for leukodystrophy, hypomyelinating, 14 has been reported in the published literature.
No clinical trials have been registered for leukodystrophy, hypomyelinating, 14.
13 publications have been identified in PubMed for leukodystrophy, hypomyelinating, 14. Research spans Basic Science / Preclinical (23%), Epidemiology / Natural History (23%), and Other (15%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 3 | 23% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:42 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
3 |
Brain shrinkage (cerebral atrophy), Shrinkage of the cerebellum (cerebellar atrophy), Generalized hypotonia |
Head and neck | 1 | Microcephaly |
Ears | 1 | Hearing loss (hearing impairment) |
Digestive system | 1 | Feeding difficulties |
Lungs and breathing | 1 | Difficulty breathing (respiratory insufficiency) |
Eyes | 1 | Blindness |
Growth and development | 1 | Growth delay |
3 |
23% |
Other research | 2 | 15% |
Research summaries | 2 | 15% |
Testing and diagnosis research | 1 | 8% |
Patient case studies | 1 | 8% |
New treatment approaches | 1 | 8% |
Storck A (2026). [PMID: 41551069](https://pubmed.ncbi.nlm.nih.gov/41551069/). *Clin Park Relat Disord*. [Case Report / Case Series]
Cortes C (2026). [PMID: 41547109](https://pubmed.ncbi.nlm.nih.gov/41547109/). *Epilepsy Res*. [Basic Science / Preclinical]
Shkreta L (2026). [PMID: 41732205](https://pubmed.ncbi.nlm.nih.gov/41732205/). *Mol Ther Nucleic Acids*. [Gene Therapy / Novel Therapeutics]
Drobňaková S (2026). [PMID: 42195294](https://pubmed.ncbi.nlm.nih.gov/42195294/). *Life (Basel)*. [Other]
Yan T (2025). [PMID: 40468360](https://pubmed.ncbi.nlm.nih.gov/40468360/). *Mol Neurodegener*. [Review / Meta-Analysis]
Kaur N (2025). [PMID: 39470296](https://pubmed.ncbi.nlm.nih.gov/39470296/). *Am J Med Genet A*. [Epidemiology / Natural History]
Hernandez-Alvarado S (2025). [PMID: 41108998](https://pubmed.ncbi.nlm.nih.gov/41108998/). *Epilepsy Behav*. [Basic Science / Preclinical]
Shiva M (2025). [PMID: 39558671](https://pubmed.ncbi.nlm.nih.gov/39558671/). *J Child Neurol*. [Epidemiology / Natural History]
Ichihara Y (2025). [PMID: 39846712](https://pubmed.ncbi.nlm.nih.gov/39846712/). *Medicines (Basel)*. [Basic Science / Preclinical]
Che G (2025). [PMID: 39757643](https://pubmed.ncbi.nlm.nih.gov/39757643/). *Curr Neuropharmacol*. [Review / Meta-Analysis]