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Features include very common findings: Atypical behavior, Intellectual disability, and Movement abnormalities (abnormality of movement).
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 3 | Atypical behavior, Intellectual disability, Movement abnormalities (abnormality of movement) |
Biomarker and diagnostic research for HSD10 disease, atypical type has been reported in the published literature.
Phenotype severity distribution: 3 very common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for HSD10 disease, atypical type.
92 publications have been identified in PubMed for HSD10 disease, atypical type. Research spans Basic Science / Preclinical (43%), Case Report / Case Series (30%), and Epidemiology / Natural History (8%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 39 | 43% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:48 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about HSD10 disease, atypical type
Patient case studies
27 |
30% |
Disease patterns and progression | 7 | 8% |
Research summaries | 5 | 6% |
Testing and diagnosis research | 4 | 4% |
Clinical study results | 4 | 4% |
New treatment approaches | 4 | 4% |
Gaberova K (2026). [PMID: 42100784](https://pubmed.ncbi.nlm.nih.gov/42100784/). *Front Psychiatry*. [Case Report / Case Series]
Nomura T (2026). [PMID: 42055913](https://pubmed.ncbi.nlm.nih.gov/42055913/). *J Neurosci*. [Basic Science / Preclinical]
Liang Q (2026). [PMID: 41198829](https://pubmed.ncbi.nlm.nih.gov/41198829/). *J Hum Genet*. [Basic Science / Preclinical]
Assing DL (2026). [PMID: 42026842](https://pubmed.ncbi.nlm.nih.gov/42026842/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Miller JS (2026). [PMID: 41260060](https://pubmed.ncbi.nlm.nih.gov/41260060/). *Pediatric neurology*. [Epidemiology / Natural History]
Proteau-Lemieux M (2026). [PMID: 41657078](https://pubmed.ncbi.nlm.nih.gov/41657078/). *Autism research : official journal of the International Society for Autism Research*. [Case Report / Case Series]
Pena-Ortiz MA (2026). [PMID: 41239822](https://pubmed.ncbi.nlm.nih.gov/41239822/). *Glia*. [Diagnostic / Biomarker]
Hawkins V (2026). [PMID: 41751536](https://pubmed.ncbi.nlm.nih.gov/41751536/). *Genes*. [Basic Science / Preclinical]
Quesnel K (2026). [PMID: 41724591](https://pubmed.ncbi.nlm.nih.gov/41724591/). *Autism research : official journal of the International Society for Autism Research*. [Basic Science / Preclinical]
Weissgold S (2026). [PMID: 42028919](https://pubmed.ncbi.nlm.nih.gov/42028919/). *J Intellect Disabil Res*. [Review / Meta-Analysis]