Features include always present findings: Bilateral tonic-clonic seizure, Moderate intellectual disability, Mild intellectual disability, and Relative macrocephaly and others; and very common findings: Low muscle tone (hypotonia). 59 total HPO annotations.

KICS2 encodes KICSTOR subunit 2 (445 aa). As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Highest expression in Cells EBV-transformed lymphocytes (6.4 TPM) and Skin Sun Exposed Lower leg (4.9 TPM).

Intellectual developmental disorder, autosomal recessive 83 is associated with mutations in the KICS2 gene on chromosome 12.

KICS2 is classified as a druggable target with score 0.0.

Genetic testing for KICS2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 13 always present features, 1 very common feature, 20 common features.

No clinical trials have been registered for intellectual developmental disorder, autosomal recessive 83.

3 publications have been identified in PubMed for intellectual developmental disorder, autosomal recessive 83. Research spans Other (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

• Chen J (2025). [PMID: 41188742](https://pubmed.ncbi.nlm.nih.gov/41188742/). *BMC Pediatr*. [Case Report / Case Series]

• Di Folco C (2025). [PMID: 40832806](https://pubmed.ncbi.nlm.nih.gov/40832806/). *Mov Disord*. [Other]

• Li X (2025). [PMID: 40524219](https://pubmed.ncbi.nlm.nih.gov/40524219/). *Cell Biosci*. [Basic Science / Preclinical]