Features include always present findings: Moderate intellectual disability, Delayed speech and language development, Sleep disturbance, and Low muscle tone (hypotonia) and others; and common findings: Seizure. 13 total HPO annotations.

ANK3 encodes ankyrin 3 (4,377 aa). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Highest expression in Brain Cerebellar Hemisphere (58.6 TPM) and Brain Cerebellum (53.7 TPM).

Intellectual disability-hypotonia-spasticity-sleep disorder syndrome is associated with mutations in the ANK3 gene on chromosome 10.

The ANK3 protein participates in CDH1 translocates to the plasma membrane pathway.

ANK3 is classified as a druggable target (Cell Surface and Ion Channel categories) with score 1.2.

Genetic testing for ANK3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 7 always present features, 1 common feature.

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

No clinical trials have been registered for intellectual disability-hypotonia-spasticity-sleep disorder syndrome.

212 publications have been identified in PubMed for intellectual disability-hypotonia-spasticity-sleep disorder syndrome. Kisho has analyzed 40 by research type. Research spans Basic Science / Preclinical (45%), Review / Meta-Analysis (33%), and Case Report / Case Series (10%).