# autosomal dominant non-syndromic intellectual disability 19

> autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1

**Wikidata**: [Q50349623](https://www.wikidata.org/wiki/Q50349623)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Severe_intellectual_disability-progressive_spastic_diplegia_syndrome)  
**Source**: https://4ort.xyz/entity/autosomal-dominant-non-syndromic-intellectual-disability-19


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Diagnostic exome sequencing in persons with severe intellectual disability
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e119aceb-a011-4811-9abd-6731c5b3d15d-2021-02-03T170000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000168036/MONDO_0014035)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. UMLS 2023