Features include always present findings: Delayed speech and language development, Low muscle tone (hypotonia), and Intellectual disability; and common findings: Absent speech, Seizure, and Unsteady gait. 14 total HPO annotations.

KCNQ5 encodes potassium voltage-gated channel subfamily Q member 5 (932 aa). Pore-forming subunit of the voltage-gated potassium (Kv) channel broadly expressed in brain and involved in the regulation of neuronal excitability. Associates with KCNQ3/Kv7. Highest expression in Brain Frontal Cortex BA9 (25.7 TPM) and Brain Nucleus accumbens basal ganglia (14.4 TPM).

Intellectual disability, autosomal dominant 46 is associated with mutations in the KCNQ5 gene on chromosome 6.

KCNQ5 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 1.5.

Genetic testing for KCNQ5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal dominant 46 has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 3 common features.

No clinical trials have been registered for intellectual disability, autosomal dominant 46.

13 publications have been identified in PubMed for intellectual disability, autosomal dominant 46. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (17%), and Epidemiology / Natural History (17%).