intellectual disability
MONDO:0001071Mondo
Findings
No curated finding names intellectual disability yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.
Definition from the Mondo Disease Ontology (MONDO:0001071), read 2026-09-29. CC BY 4.0.
Genes
71 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.
- METTL23HGNC:26988
- Definitive · ClinGen · Autosomal recessive · 2026
- SCN2AHGNC:10588
- Definitive · G2P · Autosomal dominant · 2015
- SETHGNC:10760
- Definitive · ClinGen · Autosomal dominant · 2021
- TUSC3HGNC:30242
- Definitive · ClinGen · Autosomal recessive · 2020
- CHD8HGNC:20153
- Strong · Ambry Genetics · Autosomal dominant · 2018
- ERBB4HGNC:3432
- Strong · PanelApp Australia · Autosomal dominant · 2025
- HGNC:10739HGNC:10739
- Strong · PanelApp Australia · Autosomal dominant · 2025
- JMJD1CHGNC:12313
- Strong · PanelApp Australia · Autosomal dominant · 2025
- AFF3HGNC:6473
- Moderate · G2P · Autosomal dominant · 2024
- ANK3HGNC:494
- Moderate · ClinGen · Autosomal recessive · 2024
- Limited · Ambry Genetics · Autosomal dominant · 2020
- CRBNHGNC:30185
- Moderate · ClinGen · Autosomal recessive · 2026
- DLG2HGNC:2901
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- DPYSL2HGNC:3014
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- ICE1HGNC:29154
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- IQSEC3HGNC:29193
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- KDM5BHGNC:18039
- Moderate · ClinGen · Autosomal recessive · 2022
- TCF7L2HGNC:11641
- Moderate · Ambry Genetics · Autosomal dominant · 2019
- ACBD6HGNC:23339
- Limited · Ambry Genetics · Autosomal recessive · 2018
- ACTL6AHGNC:24124
- Limited · Illumina · Autosomal dominant · 2018
- ADGRG6HGNC:13841
- Limited · Ambry Genetics · Autosomal recessive · 2020
- AQP4HGNC:637
- Limited · Ambry Genetics · Autosomal dominant · 2018
- ARHGAP4HGNC:674
- Limited · Ambry Genetics · X-linked · 2018
- ASCC3HGNC:18697
- Limited · Ambry Genetics · Autosomal recessive · 2020
- ASTN2HGNC:17021
- Limited · Ambry Genetics · Autosomal dominant · 2018
- AURKAHGNC:11393
- Limited · Ambry Genetics · Autosomal dominant · 2018
- B3GALNT2HGNC:28596
- Limited · Ambry Genetics · Autosomal recessive · 2018
- BOD1HGNC:25114
- Limited · Ambry Genetics · Autosomal recessive · 2020
- CACNA1CHGNC:1390
- Limited · Ambry Genetics · Autosomal dominant · 2018
- CACNA1GHGNC:1394
- Limited · Ambry Genetics · Autosomal recessive · 2018
- CAPS2HGNC:16471
- Limited · Ambry Genetics · Autosomal recessive · 2018
- CDK16HGNC:8749
- Limited · G2P · X-linked · 2025
- CEP89HGNC:25907
- Limited · Ambry Genetics · Autosomal dominant · 2018
- CHAF1BHGNC:1911
- Limited · Ambry Genetics · Autosomal recessive · 2018
- CHRM1HGNC:1950
- Limited · G2P · Autosomal dominant · 2021
- CLIP1HGNC:10461
- Limited · Ambry Genetics · Autosomal recessive · 2018
- CMASHGNC:18290
- Limited · Ambry Genetics · Autosomal recessive · 2019
- CNKSR1HGNC:19700
- Limited · Ambry Genetics · Autosomal recessive · 2020
- DHX34HGNC:16719
- Limited · G2P · Autosomal recessive · 2025
- GSPT2HGNC:4622
- Limited · G2P · X-linked · 2025
- Limited · PanelApp Australia · X-linked · 2025
- HMGB1HGNC:4983
- Limited · G2P · Autosomal dominant · 2021
- KALRNHGNC:4814
- Limited · PanelApp Australia · Autosomal recessive · 2025
- LRP2HGNC:6694
- Limited · G2P · Autosomal dominant · 2025
- LRP5HGNC:6697
- Limited · PanelApp Australia · Autosomal dominant · 2025
- MTF1HGNC:7428
- Limited · G2P · Autosomal dominant · 2025
- NR1I3HGNC:7969
- Limited · G2P · Autosomal dominant · 2015
- NRG2HGNC:7998
- Limited · Ambry Genetics · Autosomal dominant · 2025
- QKIHGNC:21100
- Limited · G2P · Autosomal dominant · 2025
- SDK2HGNC:19308
- Limited · Ambry Genetics · Autosomal recessive · 2018
- SGSM3HGNC:25228
- Limited · G2P · Autosomal recessive · 2024
- SLC25A5HGNC:10991
- Limited · Ambry Genetics · X-linked · 2020
- SRPK3HGNC:11402
- Limited · Ambry Genetics · X-linked · 2020
- STXBP1HGNC:11444
- Limited · Ambry Genetics · Autosomal dominant · 2018
- TCF4HGNC:11634
- Limited · Ambry Genetics · Autosomal dominant · 2018
- TECRHGNC:4551
- Limited · ClinGen · Autosomal recessive · 2022
- TMEM132DHGNC:29411
- Limited · Ambry Genetics · Autosomal recessive · 2018
- TRPM3HGNC:17992
- Limited · Ambry Genetics · Autosomal dominant · 2019
- TSPAN18HGNC:20660
- Limited · Ambry Genetics · Autosomal recessive · 2018
- UBA6HGNC:25581
- Limited · Ambry Genetics · Autosomal dominant · 2018
- UBQLN1HGNC:12508
- Limited · Ambry Genetics · Autosomal dominant · 2018
- UBR7HGNC:20344
- Limited · Ambry Genetics · Autosomal recessive · 2020
- VPS35HGNC:13487
- Limited · Ambry Genetics · Autosomal recessive · 2018
- VPS4AHGNC:13488
- Limited · Ambry Genetics · Autosomal dominant · 2020
- WDR13HGNC:14352
- Limited · Ambry Genetics · X-linked · 2020
- ZC3H14HGNC:20509
- Limited · ClinGen · Autosomal recessive · 2026
- ZCCHC8HGNC:25265
- Limited · Ambry Genetics · Autosomal recessive · 2018
- ZMYM3HGNC:13054
- Limited · Ambry Genetics · X-linked · 2020
- ZMYM6HGNC:13050
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · G2P · Autosomal dominant · 2025
- ZNF407HGNC:19904
- Limited · Ambry Genetics · Autosomal dominant · 2018
- CDH15HGNC:1754
- Disputed Evidence · ClinGen · Autosomal dominant · 2021
- HGNC:13249HGNC:13249
- Disputed Evidence · Ambry Genetics · Autosomal recessive · 2020
- ZNF674HGNC:17625
- Disputed Evidence · Ambry Genetics · X-linked · 2018
Where it sits
- A kind of
- Narrower terms (10)
- intellectual developmental disorder and retinitis pigmentosa; IDDRP
- intellectual developmental disorder with polymicrogyria and seizures
- intellectual disability, autosomal dominant
- intellectual disability, autosomal recessive
- NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability
- non-syndromic intellectual disability
- PPP2R1A-related intellectual disability
- SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
- syndromic intellectual disability
- X-linked intellectual disability
Other names
1 name
Resolves to: intellectual disability
- Also called
- intellectual disabilities