GDI1 encodes GDP dissociation inhibitor 1 (447 aa). Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Highest expression in Brain Cerebellum (591.2 TPM) and Brain Cerebellar Hemisphere (586.3 TPM).

Intellectual disability, X-linked 41 is associated with mutations in the GDI1 gene on chromosome X.

GDI1 is classified as a druggable target with score 13.1.

Genetic testing for GDI1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, X-linked 41 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 2 common features.

No clinical trials have been registered for intellectual disability, X-linked 41.

39 publications have been identified in PubMed for intellectual disability, X-linked 41. Research spans Case Report / Case Series (23%), Epidemiology / Natural History (23%), and Basic Science / Preclinical (18%).

Recent Publications

• Duan H (2026). [PMID: 42244324](https://pubmed.ncbi.nlm.nih.gov/42244324/). *Zhong Nan Da Xue Xue Bao Yi Xue Ban*. [Review / Meta-Analysis]

• Wright MA (2026). [PMID: 40696909](https://pubmed.ncbi.nlm.nih.gov/40696909/). *Journal of child neurology*. [Review / Meta-Analysis]

• Pan X (2026). [PMID: 41764152](https://pubmed.ncbi.nlm.nih.gov/41764152/). *Journal of molecular medicine (Berlin, Germany)*. [Diagnostic / Biomarker]

• Zhang S (2026). [PMID: 41478433](https://pubmed.ncbi.nlm.nih.gov/41478433/). *Brain research bulletin*. [Basic Science / Preclinical]

• Martinez Diaz D (2026). [PMID: 40971552](https://pubmed.ncbi.nlm.nih.gov/40971552/). *Journal of child neurology*. [Basic Science / Preclinical]

• McLennan Y (2026). [PMID: 41351347](https://pubmed.ncbi.nlm.nih.gov/41351347/). *Movement disorders : official journal of the Movement Disorder Society*. [Case Report / Case Series]

• Bruschi F (2026). [PMID: 41144879](https://pubmed.ncbi.nlm.nih.gov/41144879/). *Movement disorders : official journal of the Movement Disorder Society*. [Epidemiology / Natural History]

• Peters SU (2026). [PMID: 40567120](https://pubmed.ncbi.nlm.nih.gov/40567120/). *J Child Neurol*. [Other]

• Lam J (2026). [PMID: 41779991](https://pubmed.ncbi.nlm.nih.gov/41779991/). *Pain Med Case Rep*. [Case Report / Case Series]

• Boussetta A (2026). [PMID: 41501258](https://pubmed.ncbi.nlm.nih.gov/41501258/). *Pediatr Nephrol*. [Case Report / Case Series]