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Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:03 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 7 | Delayed speech and language development, Loss of previously acquired skills (developmental regression), Spastic ataxia |
Head and neck | 2 | Microcephaly, Craniosynostosis |
Bones and joints | 2 | Sideways curvature of the spine (scoliosis), Joint hypermobility |
Muscles | 1 | Generalized hypotonia |
Digestive system | 1 | Chronic constipation |
Age of onset: at birth, childhood.
TANC2 function has not been fully characterized.
Intellectual developmental disorder with autistic features and language delay, with or without seizures is caused by mutations in the TANC2 gene on chromosome 17.
Genetic testing for TANC2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for intellectual developmental disorder with autistic features and language delay, with or without seizures has been reported in the published literature.
Phenotype severity distribution: 2 very common features, 10 common features.
No clinical trials have been registered for intellectual developmental disorder with autistic features and language delay, with or without seizures.
204 publications have been identified in PubMed for intellectual developmental disorder with autistic features and language delay, with or without seizures. Research spans Review / Meta-Analysis (26%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (21%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 44 | 26% |
Laboratory research | 42 | 25% |
Disease patterns and progression | 36 | 21% |
Clinical study results | 24 | 14% |
Testing and diagnosis research | 9 | 5% |
Other research | 8 | 5% |
Patient case studies | 7 | 4% |
New treatment approaches | 1 | 1% |
Hoffman K (2026). [PMID: 42208391](https://pubmed.ncbi.nlm.nih.gov/42208391/). *Epilepsy Behav*. [Epidemiology / Natural History]
Shao Y (2026). [PMID: 41262005](https://pubmed.ncbi.nlm.nih.gov/41262005/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]
Aeby A (2026). [PMID: 42171895](https://pubmed.ncbi.nlm.nih.gov/42171895/). *Acta Neurol Belg*. [Review / Meta-Analysis]
Wesal A (2026). [PMID: 41697248](https://pubmed.ncbi.nlm.nih.gov/41697248/). *Expert Rev Med Devices*. [Review / Meta-Analysis]
Kanno A (2026). [PMID: 42220186](https://pubmed.ncbi.nlm.nih.gov/42220186/). *No Shinkei Geka*. [Review / Meta-Analysis]
Sánchez-Hernández SE (2026). [PMID: 41633274](https://pubmed.ncbi.nlm.nih.gov/41633274/). *Comput Biol Med*. [Basic Science / Preclinical]
Thaele A (2026). [PMID: 42066537](https://pubmed.ncbi.nlm.nih.gov/42066537/). *Seizure*. [Diagnostic / Biomarker]
Ye E (2026). [PMID: 41526775](https://pubmed.ncbi.nlm.nih.gov/41526775/). *Childs Nerv Syst*. [Review / Meta-Analysis]
Vossler DG (2026). [PMID: 42066484](https://pubmed.ncbi.nlm.nih.gov/42066484/). *Seizure*. [Review / Meta-Analysis]
Lyu C (2026). [PMID: 41633320](https://pubmed.ncbi.nlm.nih.gov/41633320/). *Epilepsy Behav*. [Clinical Trial Publication]