# autosomal recessive non-syndromic intellectual disability

> human disease

**Wikidata**: [Q19587384](https://www.wikidata.org/wiki/Q19587384)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-non-syndromic-intellectual-disability


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation
5. MED23 Mutation Links Intellectual Disability to Dysregulation of Immediate Early Gene Expression
6. Deep sequencing reveals 50 novel genes for recessive cognitive disorders
7. Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP
8. A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation
9. Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
10. Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
11. A homozygous missense mutation inHERC2associated with global developmental delay and autism spectrum disorder
12. ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions
13. Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy
14. METTL23, a transcriptional partner of GABPA, is essential for human cognition
15. Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures
16. Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
17. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation
18. A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation
19. Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13
20. A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation
21. [Identifiers.org](https://registry.identifiers.org/registry/doid)
22. UMLS 2023