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autosomal recessive non-syndromic intellectual disability

human disease
MedicalCondition rare_disease Q19587384
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Summary

autosomal recessive non-syndromic intellectual disability is a rare disease[1]. It is known by 9 alternative names across languages and contexts.[2]

Key Facts

  • Instance of: class of disease[3]
  • Subclass of: non-syndromic intellectual disability[4], autosomal recessive disease[5], genetic intellectual disability[6]
  • Genetic association: PRSS12[7], MED23[8], TTI2[9], LINS1[10], TAF2[11], WASHC4[12], TUSC3[13], NSUN2[14], ANK3[15], HERC2[16], ST3GAL3[17], PGAP1[18], METTL23[19], KPTN[20]

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [6] ↑ . wikidata.org.
  5. [7] ↑ . UniProt. Retrieved . wikidata.org.
  6. [8] ↑ . MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. wikidata.org.
  7. [9] ↑ . Deep sequencing reveals 50 novel genes for recessive cognitive disorders. wikidata.org.
  8. [10] ↑ . Deep sequencing reveals 50 novel genes for recessive cognitive disorders. wikidata.org.
  9. [11] ↑ . Deep sequencing reveals 50 novel genes for recessive cognitive disorders. wikidata.org.
  10. [12] ↑ . Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.. wikidata.org.
  11. [13] ↑ . A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. wikidata.org.
  12. [14] ↑ . Mutations in NSUN2 cause autosomal-recessive intellectual disability.. wikidata.org.
  13. [15] ↑ . Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.. wikidata.org.
  14. [16] ↑ . A homozygous missense mutation inHERC2associated with global developmental delay and autism spectrum disorder. wikidata.org.
  15. [17] ↑ . ST3GAL3 mutations impair the development of higher cognitive functions.. wikidata.org.
  16. [18] ↑ . Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. wikidata.org.
  17. [19] ↑ . METTL23, a transcriptional partner of GABPA, is essential for human cognition. wikidata.org.
  18. [20] ↑ . Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikidata aliases. wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). autosomal recessive non-syndromic intellectual disability. Retrieved October 24, 2026, from https://4ort.xyz/entity/autosomal-recessive-non-syndromic-intellectual-disability
MLA “autosomal recessive non-syndromic intellectual disability.” 4ort.xyz Knowledge Graph, 4ort.xyz, 24 Oct. 2026, https://4ort.xyz/entity/autosomal-recessive-non-syndromic-intellectual-disability.
BibTeX @misc{4ortxyz_autosomal-recessive-non-syndromic-intellectual-disability_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive non-syndromic intellectual disability}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-non-syndromic-intellectual-disability}, note = {Accessed: 2026-10-24}}
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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 9h ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Mesh descriptor id → C565406
    Mondo id → MONDO_0009580
    Instance of → rare disease, class of disease
    Umls cui → C1855304, C5680181
    + 13 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update-languages-and-other-short:0||pt, pt-br */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
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