autism spectrum disorder
MONDO:0005258Mondo
Findings
No curated finding names autism spectrum disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.
Definition from the Mondo Disease Ontology (MONDO:0005258), read 2026-09-29. CC BY 4.0.
Genes
44 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.
- DDX53HGNC:20083
- Strong · PanelApp Australia · X-linked · 2025
- GIGYF1HGNC:9126
- Strong · PanelApp Australia · Autosomal dominant · 2025
- DSCAMHGNC:3039
- Moderate · Ambry Genetics · Autosomal dominant · 2019
- WDFY3HGNC:20751
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- ADGRG4HGNC:18992
- Limited · Ambry Genetics · Autosomal dominant · 2020
- AGMOHGNC:33784
- Limited · Ambry Genetics · Autosomal dominant · 2018
- AP1S2HGNC:560
- Limited · Ambry Genetics · X-linked · 2018
- AP2S1HGNC:565
- Limited · Ambry Genetics · Autosomal dominant · 2019
- ARHGEF38HGNC:25968
- Limited · Ambry Genetics · Autosomal dominant · 2018
- ASTN2HGNC:17021
- Limited · Ambry Genetics · Autosomal dominant · 2018
- AVPR1AHGNC:895
- Limited · PanelApp Australia · Autosomal dominant · 2025
- Disputed Evidence · ClinGen · Unknown · 2022
- BAZ1BHGNC:961
- Limited · Ambry Genetics · Autosomal dominant · 2020
- CADM1HGNC:5951
- Limited · Ambry Genetics · Autosomal dominant · 2018
- CAPRIN1HGNC:6743
- Limited · Ambry Genetics · Autosomal dominant · 2018
- CCDC91HGNC:24855
- Limited · Ambry Genetics · Autosomal dominant · 2018
- CORO1AHGNC:2252
- Limited · Ambry Genetics · Autosomal dominant · 2019
- CSMD1HGNC:14026
- Limited · Ambry Genetics · Autosomal dominant · 2020
- CTTNBP2HGNC:15679
- Limited · Ambry Genetics · Autosomal dominant · 2019
- CYLC2HGNC:2583
- Limited · Ambry Genetics · Autosomal dominant · 2018
- DAPK1HGNC:2674
- Limited · Ambry Genetics · Autosomal dominant · 2020
- DIP2AHGNC:17217
- Limited · Ambry Genetics · Autosomal dominant · 2019
- DLX6HGNC:2919
- Limited · Ambry Genetics · Autosomal dominant · 2018
- FAAH2HGNC:26440
- Limited · PanelApp Australia · X-linked · 2025
- HGNC:30377HGNC:30377
- Limited · Ambry Genetics · Autosomal dominant · 2020
- RFX3HGNC:9984
- Limited · Ambry Genetics · Autosomal dominant · 2019
- RIMS1HGNC:17282
- Limited · Illumina · Autosomal dominant · 2020
- SLC7A3HGNC:11061
- Limited · Ambry Genetics · Autosomal dominant · 2018
- STXBP1HGNC:11444
- Limited · Ambry Genetics · Autosomal dominant · 2018
- TAOK2HGNC:16835
- Limited · Ambry Genetics · Autosomal dominant · 2020
- TCF4HGNC:11634
- Limited · Ambry Genetics · Autosomal dominant · 2018
- TM9SF4HGNC:30797
- Limited · Ambry Genetics · Autosomal dominant · 2019
- TSHZ3HGNC:30700
- Limited · Ambry Genetics · Autosomal dominant · 2018
- VEZF1HGNC:12949
- Limited · Ambry Genetics · Autosomal dominant · 2019
- WDR93HGNC:26924
- Limited · Ambry Genetics · Autosomal recessive · 2018
- XRCC6HGNC:4055
- Limited · Ambry Genetics · Autosomal dominant · 2019
- YTHDC1HGNC:30626
- Limited · Ambry Genetics · Autosomal dominant · 2018
- ZC3H12BHGNC:17407
- Limited · Ambry Genetics · Autosomal dominant · 2019
- ZMYND8HGNC:9397
- Limited · Ambry Genetics · Autosomal dominant · 2019
- ZWILCHHGNC:25468
- Limited · Ambry Genetics · Autosomal dominant · 2018
- CLN8HGNC:2079
- Disputed Evidence · Ambry Genetics · Autosomal dominant · 2018
- CNTN4HGNC:2174
- Disputed Evidence · Illumina · Autosomal dominant · 2020
- SLC6A4HGNC:11050
- Disputed Evidence · ClinGen · Autosomal dominant · 2021
- SLC9A9HGNC:20653
- Disputed Evidence · ClinGen · Autosomal dominant · 2020
- TMLHEHGNC:18308
- Disputed Evidence · ClinGen · X-linked · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: autism spectrum disorder
- Also called
- autistic spectrum disorderpervasive developmental disorder - not otherwise specifiedpervasive developmental disorders