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Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.
Features include always present findings: Short stature, Low muscle tone (hypotonia), Abnormal corpus callosum morphology, and Coarse facial features and others; and common findings: Hearing loss (hearing impairment), Long philtrum, Inguinal hernia, and Seizure and others. 41 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 4 | Seizure, Intellectual disability, Global developmental delay |
Head and neck | 4 | Coarse facial features, High palate, Microcephaly |
Bones and joints | 3 | Sideways curvature of the spine (scoliosis), Delayed skeletal maturation, Joint hypermobility |
Growth and development | 2 | Short stature, Intrauterine growth retardation |
Eyes | 2 | Ptosis, Visual impairment |
Ears | 1 | Hearing loss (hearing impairment) |
Muscles | 1 | Low muscle tone (hypotonia) |
Blood and immune system | 1 | Recurrent infections |
Heart and blood vessels | 1 | Abnormal heart morphology |
Digestive system | 1 | Feeding difficulties |
Arms and legs | 1 | Short distal phalanx of the 5th finger |
SMARCB1 function has not been fully characterized.
Intellectual disability, autosomal dominant 15 is associated with mutations in the SMARCB1 gene on chromosome 22.
Genetic testing for SMARCB1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for intellectual disability, autosomal dominant 15 has been reported in the published literature.
Phenotype severity distribution: 17 always present features, 16 common features.
No clinical trials have been registered for intellectual disability, autosomal dominant 15.
57 publications have been identified in PubMed for intellectual disability, autosomal dominant 15. Research spans Case Report / Case Series (56%), Review / Meta-Analysis (16%), and Basic Science / Preclinical (11%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 32 | 56% |
Research summaries | 9 | 16% |
Laboratory research | 6 | 11% |
Disease patterns and progression | 6 | 11% |
Other research | 2 | 4% |
Testing and diagnosis research | 1 | 2% |
Clinical study results | 1 | 2% |
Ekici B (2026). [PMID: 41952703](https://pubmed.ncbi.nlm.nih.gov/41952703/). *Surg Neurol Int*. [Case Report / Case Series]
Donaldson S (2026). [PMID: 42186234](https://pubmed.ncbi.nlm.nih.gov/42186234/). *Arch Clin Neuropsychol*. [Case Report / Case Series]
Li M (2026). [PMID: 41710014](https://pubmed.ncbi.nlm.nih.gov/41710014/). *Front Pediatr*. [Review / Meta-Analysis]
Manav Yiğit Z (2026). [PMID: 41320952](https://pubmed.ncbi.nlm.nih.gov/41320952/). *Balkan Med J*. [Case Report / Case Series]
Cipri S (2026). [PMID: 41700448](https://pubmed.ncbi.nlm.nih.gov/41700448/). *Am J Med Genet A*. [Case Report / Case Series]
Schuhmann S (2026). [PMID: 42173440](https://pubmed.ncbi.nlm.nih.gov/42173440/). *Eur J Med Genet*. [Case Report / Case Series]
Saad R (2026). [PMID: 42206491](https://pubmed.ncbi.nlm.nih.gov/42206491/). *Genet Med*. [Basic Science / Preclinical]
Chu S (2026). [PMID: 42168980](https://pubmed.ncbi.nlm.nih.gov/42168980/). *BMC Pediatr*. [Case Report / Case Series]
Tudorache E (2026). [PMID: 41976806](https://pubmed.ncbi.nlm.nih.gov/41976806/). *J Clin Med*. [Case Report / Case Series]
Shah SJ (2026). [PMID: 41971929](https://pubmed.ncbi.nlm.nih.gov/41971929/). *AME Case Rep*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC
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