Features include always present findings: Intellectual disability; and very common findings: Failure to thrive and Esotropia. 24 total HPO annotations.

ADAT3 encodes adenosine deaminase tRNA specific 3 (367 aa). Non-catalytic subunit of the tRNA-specific adenosine-34 deaminase complex, composed of the ADAT2 catalytic subunit and the ADAT3 regulatory subunit, which deaminates adenosine-34 (the first, also called wobble position of the anticodon) to inosine in many tRNAs. Highest expression in Skin Not Sun Exposed Suprapubic (14.1 TPM) and Skin Sun Exposed Lower leg (13.6 TPM).

Intellectual disability-strabismus syndrome has been associated with mutations in the ADAT3 gene on chromosome 19.

ADAT3 is classified as a druggable target (Enzyme category) with score 0.0.

7 pathogenic variants reported in ADAT3 in ClinVar, including hotspot variant NP_001316462.1:p.Val128Met (2-star review).

Genetic testing for ADAT3 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for intellectual disability-strabismus syndrome has been reported in the published literature.

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

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

No clinical trials have been registered for intellectual disability-strabismus syndrome.

204 publications have been identified in PubMed for intellectual disability-strabismus syndrome. Kisho has analyzed 117 by research type. Research spans Review / Meta-Analysis (32%), Basic Science / Preclinical (29%), and Case Report / Case Series (21%).