syndromic intellectual disability
MONDO:0000508Mondo
Findings
No curated finding names syndromic intellectual disability yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A intellectual disability that is part of a larger syndrome.
Definition from the Mondo Disease Ontology (MONDO:0000508), read 2026-09-29. CC BY 4.0.
Genes
66 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.
- ASXL2HGNC:23805
- Definitive · ClinGen · Autosomal dominant · 2021
- ASXL3HGNC:29357
- Definitive · ClinGen · Autosomal dominant · 2021
- AUTS2HGNC:14262
- Definitive · ClinGen · Autosomal dominant · 2020
- BPTFHGNC:3581
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · Illumina · Autosomal dominant · 2020
- BRD4HGNC:13575
- Definitive · ClinGen · Autosomal dominant · 2025
- CDK13HGNC:1733
- Definitive · ClinGen · Autosomal dominant · 2021
- CHD4HGNC:1919
- Definitive · ClinGen · Autosomal dominant · 2023
- CRADDHGNC:2340
- Definitive · ClinGen · Autosomal recessive · 2021
- CSNK2A1HGNC:2457
- Definitive · ClinGen · Autosomal dominant · 2022
- CTCFHGNC:13723
- Definitive · ClinGen · Autosomal dominant · 2021
- EIF3FHGNC:3275
- Definitive · ClinGen · Autosomal recessive · 2023
- H1-4HGNC:4718
- Definitive · ClinGen · Autosomal dominant · 2023
- HNRNPH1HGNC:5041
- Definitive · ClinGen · Autosomal dominant · 2024
- HNRNPRHGNC:5047
- Definitive · ClinGen · Autosomal dominant · 2023
- HOXA1HGNC:5099
- Definitive · ClinGen · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- KAT6AHGNC:13013
- Definitive · ClinGen · Autosomal dominant · 2021
- KDM3BHGNC:1337
- Definitive · ClinGen · Autosomal dominant · 2024
- KDM6BHGNC:29012
- Definitive · ClinGen · Autosomal dominant · 2022
- Limited · ClinGen · Autosomal recessive · 2026
- KIF1AHGNC:888
- Definitive · ClinGen · Autosomal dominant · 2020
- KMT2CHGNC:13726
- Definitive · ClinGen · Autosomal dominant · 2022
- MED13LHGNC:22962
- Definitive · ClinGen · Autosomal dominant · 2021
- MEIS2HGNC:7001
- Definitive · ClinGen · Autosomal dominant · 2022
- NAA15HGNC:30782
- Definitive · ClinGen · Autosomal dominant · 2022
- NSD2HGNC:12766
- Definitive · ClinGen · Autosomal dominant · 2021
- NSUN2HGNC:25994
- Definitive · ClinGen · Autosomal recessive · 2023
- OTUD6BHGNC:24281
- Definitive · ClinGen · Autosomal recessive · 2024
- PIGLHGNC:8966
- Definitive · ClinGen · Autosomal recessive · 2022
- PPM1DHGNC:9277
- Definitive · ClinGen · Autosomal dominant · 2022
- PUF60HGNC:17042
- Definitive · ClinGen · Autosomal dominant · 2021
- RAC1HGNC:9801
- Definitive · ClinGen · Autosomal dominant · 2023
- TAOK1HGNC:29259
- Definitive · ClinGen · Autosomal dominant · 2021
- TRIOHGNC:12303
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · Illumina · Autosomal dominant · 2020
- WDFY3HGNC:20751
- Definitive · ClinGen · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
- NBEAHGNC:7648
- Strong · Illumina · Autosomal dominant · 2019
- ACTL6AHGNC:24124
- Moderate · Illumina · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
- MED23HGNC:2372
- Moderate · ClinGen · Autosomal recessive · 2026
- NAA20HGNC:15908
- Moderate · ClinGen · Autosomal recessive · 2026
- ACTL6BHGNC:160
- Supportive · Orphanet · Autosomal dominant · 2021
- BCORL1HGNC:25657
- Supportive · Orphanet · Autosomal dominant · 2021
- DDX6HGNC:2747
- Supportive · Orphanet · Autosomal dominant · 2021
- DOCK3HGNC:2989
- Supportive · Orphanet · Autosomal dominant · 2021
- DPYSL5HGNC:20637
- Supportive · Orphanet · Autosomal dominant · 2021
- FBXW11HGNC:13607
- Supportive · Orphanet · Autosomal dominant · 2021
- HGNC:28295HGNC:28295
- Supportive · Orphanet · Autosomal dominant · 2021
- HUWE1HGNC:30892
- Supportive · Orphanet · Autosomal dominant · 2021
- JARID2HGNC:6196
- Supportive · Orphanet · Autosomal dominant · 2021
- KDM4BHGNC:29136
- Supportive · Orphanet · Autosomal dominant · 2021
- KMT2EHGNC:18541
- Supportive · Orphanet · Autosomal dominant · 2021
- MADDHGNC:6766
- Supportive · Orphanet · Autosomal dominant · 2021
- MED13HGNC:22474
- Supportive · Orphanet · Autosomal dominant · 2021
- NTNG1HGNC:23319
- Supportive · Orphanet · Autosomal dominant · 2021
- NTNG2HGNC:14288
- Supportive · Orphanet · Autosomal dominant · 2021
- PSMD12HGNC:9557
- Supportive · Orphanet · Autosomal dominant · 2021
- PUS7HGNC:26033
- Supportive · Orphanet · Autosomal dominant · 2021
- RLIMHGNC:13429
- Supportive · Orphanet · Autosomal dominant · 2021
- SVBPHGNC:29204
- Supportive · Orphanet · Autosomal dominant · 2021
- TANC2HGNC:30212
- Supportive · Orphanet · Autosomal dominant · 2021
- TCF20HGNC:11631
- Supportive · Orphanet · Autosomal dominant · 2021
- TNRC6BHGNC:29190
- Supportive · Orphanet · Autosomal dominant · 2021
- TRAPPC4HGNC:19943
- Supportive · Orphanet · Autosomal dominant · 2021
- TRMT1HGNC:25980
- Supportive · Orphanet · Autosomal dominant · 2021
- ZMIZ1HGNC:16493
- Supportive · Orphanet · Autosomal dominant · 2021
- BOD1HGNC:25114
- Limited · Franklin by Genoox · Autosomal recessive · 2020
- SIN3BHGNC:19354
- Limited · G2P · Autosomal dominant · 2021
- SOBPHGNC:29256
- Limited · ClinGen · Autosomal recessive · 2022
- ZMYM3HGNC:13054
- No Known Disease Relationship · Illumina · X-linked · 2020
Where it sits
- Narrower terms (17)
- 2p25.3 microduplication syndrome
- 3q27.3 microdeletion syndrome
- 7p22.1 microduplication syndrome
- 9p13 microdeletion syndrome
- 9q31.1q31.3 microdeletion syndrome
- 9q33.3q34.11 microdeletion syndrome
- AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
- aplasia cutis-enamel dysplasia syndrome
- autosomal dominant syndromic intellectual disability
- autosomal recessive syndromic intellectual disability
- CK syndrome
- dyneinopathy
- intellectual disability, Buenos-Aires type
- intellectual disability, Wolff type
- Rubinstein-Taybi syndrome
- Smith-Magenis syndrome
- X-linked syndromic intellectual disability
Other names
1 name
Resolves to: syndromic intellectual disability
- Also called
- syndrome associated with intellectual disability