autism
Findings
No curated finding names autism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Definition from the Mondo Disease Ontology (MONDO:0005260), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.
- Delayed speech and language developmentMondoHP:0000750
Genes
12 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TBR1HGNC:11590
- Definitive · G2P · Autosomal dominant · 2025
- CHD8HGNC:20153
- Strong · G2P · Autosomal dominant · 2025
- DSCAMHGNC:3039
- Strong · PanelApp Australia · Autosomal dominant · 2025
- RIMS1HGNC:17282
- Strong · PanelApp Australia · Autosomal dominant · 2025
- SHANK1HGNC:15474
- Strong · G2P · Autosomal dominant · 2025
- HGNC:8008HGNC:8008
Where it sits
- A kind of
Other names
3 names
Resolves to: autism
- Also called
- autism (disease)infantile autismKanner's syndrome