autosomal recessive non-syndromic intellectual disability
MONDO:0019502Mondo
Findings
No curated finding names autosomal recessive non-syndromic intellectual disability yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive form of non-syndromic intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0019502), read 2026-09-29. CC BY 4.0.
Genes
41 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.
- AIMP1HGNC:10648
- Supportive · Orphanet · Autosomal recessive · 2021
- ALKBH8HGNC:25189
- Supportive · Orphanet · Autosomal recessive · 2021
- B3GALNT2HGNC:28596
- Supportive · Orphanet · Autosomal recessive · 2021
- CC2D1AHGNC:30237
- Supportive · Orphanet · Autosomal recessive · 2021
- CLIP1HGNC:10461
- Supportive · Orphanet · Autosomal recessive · 2021
- CRADDHGNC:2340
- Supportive · Orphanet · Autosomal recessive · 2021
- CRBNHGNC:30185
- Supportive · Orphanet · Autosomal recessive · 2021
- DCPSHGNC:29812
- Supportive · Orphanet · Autosomal recessive · 2021
- EDC3HGNC:26114
- Supportive · Orphanet · Autosomal recessive · 2021
- EZRHGNC:12691
- Supportive · Orphanet · Autosomal recessive · 2021
- FBXO31HGNC:16510
- Supportive · Orphanet · Autosomal recessive · 2021
- FMN2HGNC:14074
- Supportive · Orphanet · Autosomal recessive · 2021
- FRRS1LHGNC:1362
- Supportive · Orphanet · Autosomal recessive · 2021
- GRIK2HGNC:4580
- Supportive · Orphanet · Autosomal recessive · 2021
- HGNC:9477HGNC:9477
- Supportive · Orphanet · Autosomal recessive · 2021
- HNMTHGNC:5028
- Supportive · Orphanet · Autosomal recessive · 2021
- IQSEC1HGNC:29112
- Supportive · Orphanet · Autosomal recessive · 2021
- KDM5BHGNC:18039
- Supportive · Orphanet · Autosomal recessive · 2021
- LINS1HGNC:30922
- Supportive · Orphanet · Autosomal recessive · 2021
- LMAN2LHGNC:19263
- Supportive · Orphanet · Autosomal recessive · 2021
- MAN1B1HGNC:6823
- Supportive · Orphanet · Autosomal recessive · 2021
- MBOAT7HGNC:15505
- Supportive · Orphanet · Autosomal recessive · 2021
- MED23HGNC:2372
- Supportive · Orphanet · Autosomal recessive · 2021
- MED25HGNC:28845
- Supportive · Orphanet · Autosomal recessive · 2021
- METTL23HGNC:26988
- Supportive · Orphanet · Autosomal recessive · 2021
- NCDNHGNC:17597
- Supportive · Orphanet · Autosomal recessive · 2021
- NDST1HGNC:7680
- Supportive · Orphanet · Autosomal recessive · 2021
- NSUN2HGNC:25994
- Supportive · Orphanet · Autosomal recessive · 2021
- PGAP1HGNC:25712
- Supportive · Orphanet · Autosomal recessive · 2021
- PIGCHGNC:8960
- Supportive · Orphanet · Autosomal recessive · 2021
- RSRC1HGNC:24152
- Supportive · Orphanet · Autosomal recessive · 2021
- SARS1HGNC:10537
- Supportive · Orphanet · Autosomal recessive · 2021
- SLC45A1HGNC:17939
- Supportive · Orphanet · Autosomal recessive · 2021
- TECRHGNC:4551
- Supportive · Orphanet · Autosomal recessive · 2021
- TNIKHGNC:30765
- Supportive · Orphanet · Autosomal recessive · 2021
- TRAPPC9HGNC:30832
- Supportive · Orphanet · Autosomal recessive · 2021
- TTC5HGNC:19274
- Supportive · Orphanet · Autosomal recessive · 2021
- TUSC3HGNC:30242
- Supportive · Orphanet · Autosomal recessive · 2021
- UBE4AHGNC:12499
- Supportive · Orphanet · Autosomal recessive · 2021
- WASHC4HGNC:29174
- Supportive · Orphanet · Autosomal recessive · 2021
- ZC3H14HGNC:20509
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (68)
- Al-Raqad syndrome
- glycosylphosphatidylinositol biosynthesis defect 16
- intellectual developmental disorder, autosomal recessive 67
- intellectual developmental disorder, autosomal recessive 68
- intellectual developmental disorder, autosomal recessive 69
- intellectual developmental disorder, autosomal recessive 70
- intellectual developmental disorder, autosomal recessive 71
- intellectual developmental disorder, autosomal recessive 72
- intellectual developmental disorder, autosomal recessive 73
- intellectual developmental disorder, autosomal recessive 74
- intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
- intellectual developmental disorder, autosomal recessive 76
Other names
4 names
Resolves to: autosomal recessive non-syndromic intellectual disability
- Also called
- AR-NSIDmental retardation, autosomal recessivenon-syndromic intellectual disability, autosomal recessiveNS-ARID