Features include always present findings: Motor delay; and common findings: Delayed speech and language development and Global developmental delay. 30 total HPO annotations.

CIC encodes capicua transcriptional repressor (2,517 aa). Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development Highest expression in Brain Cerebellum (123.9 TPM) and Brain Cerebellar Hemisphere (101.7 TPM).

Intellectual disability, autosomal dominant 45 is associated with mutations in the CIC gene on chromosome 19.

The CIC protein participates in Defective Inhibition of DNA Recombination at Telomere and CLCN1/2/KA/KB transport cytosolic Cl- to extracellular region pathways.

CIC is classified as a druggable target (Clinically Actionable and Drug Resistance categories) with score 0.5.

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

Biomarker and diagnostic research for intellectual disability, autosomal dominant 45 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 2 common features.

No clinical trials have been registered for intellectual disability, autosomal dominant 45.

14 publications have been identified in PubMed for intellectual disability, autosomal dominant 45. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (36%), and Epidemiology / Natural History (14%).