Features include always present findings: Intellectual disability; and common findings: Seizure, Low muscle tone (hypotonia), Microcephaly, and Hypoplasia of the corpus callosum and others. 44 total HPO annotations.

RAC1 function has not been fully characterized.

Intellectual disability, autosomal dominant 48 is associated with mutations in the RAC1 gene on chromosome 7.

Genetic testing for RAC1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal dominant 48 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 9 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for intellectual disability, autosomal dominant 48.

8 publications have been identified in PubMed for intellectual disability, autosomal dominant 48. Research spans Case Report / Case Series (63%), Diagnostic / Biomarker (13%), and Review / Meta-Analysis (13%).

Recent Publications

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

• Miao H (2026). [PMID: 41898828](https://pubmed.ncbi.nlm.nih.gov/41898828/). *Genes*. [Review / Meta-Analysis]

• Ketenci-İşlek S (2026). [PMID: 40538467](https://pubmed.ncbi.nlm.nih.gov/40538467/). *Molecular syndromology*. [Case Report / Case Series]

• Jiang CC (2026). [PMID: 41669812](https://pubmed.ncbi.nlm.nih.gov/41669812/). *Yi chuan = Hereditas*. [Case Report / Case Series]

• Upadia J (2025). [PMID: 39838818](https://pubmed.ncbi.nlm.nih.gov/39838818/). *American journal of medical genetics. Part A*. [Case Report / Case Series]