PGAP1 function has not been fully characterized.

Intellectual disability, autosomal recessive 42 is associated with mutations in the PGAP1 gene on chromosome 2.

Genetic testing for PGAP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal recessive 42 has been reported in the published literature.

Phenotype severity distribution: 33 always present features, 22 common features.

No clinical trials have been registered for intellectual disability, autosomal recessive 42.

6 publications have been identified in PubMed for intellectual disability, autosomal recessive 42. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Case Report / Case Series (17%).

Recent Publications

• Chaabouni M (2026). [PMID: 41854122](https://pubmed.ncbi.nlm.nih.gov/41854122/). *Clinical genetics*. [Diagnostic / Biomarker]

• Di Folco C (2025). [PMID: 40832806](https://pubmed.ncbi.nlm.nih.gov/40832806/). *Movement disorders : official journal of the Movement Disorder Society*. [Clinical Trial Publication]

• Palacios-Diaz RD (2025). [PMID: 39143029](https://pubmed.ncbi.nlm.nih.gov/39143029/). *Pediatric dermatology*. [Case Report / Case Series]

• Webb BD (2025). [PMID: 40662098](https://pubmed.ncbi.nlm.nih.gov/40662098/). *Genetics in medicine open*. [Review / Meta-Analysis]

• Zaki-Dizaji M (2024). [PMID: 38983774](https://pubmed.ncbi.nlm.nih.gov/38983774/). *Brain, behavior, & immunity - health*. [Review / Meta-Analysis]

• Scaravilli A (2024). [PMID: 38880819](https://pubmed.ncbi.nlm.nih.gov/38880819/). *Journal of neurology*. [Diagnostic / Biomarker]