Features include always present findings: Cerebellar vermis hypoplasia, Delayed speech and language development, Global developmental delay, and Intellectual disability; and common findings: Microcephaly, Seizure, Sleep disturbance, and Motor delay and others.

NSUN6 encodes NOP2/Sun RNA methyltransferase 6 (469 aa). S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C5 position of cytosine 72 in tRNA(Thr)(TGT) and tRNA(Cys)(GCA). In vitro also methylates tRNA(Thr)(AGT). Highest expression in Testis (37.2 TPM) and Pituitary (29.5 TPM).

Intellectual developmental disorder, autosomal recessive 82 is associated with mutations in the NSUN6 gene on chromosome 10.

NSUN6 is classified as a druggable target with score 0.0.

Genetic testing for NSUN6 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features, 9 common features.

No clinical trials have been registered for intellectual developmental disorder, autosomal recessive 82.

3 publications have been identified in PubMed for intellectual developmental disorder, autosomal recessive 82. Research spans Epidemiology / Natural History (67%) and Review / Meta-Analysis (33%).

Recent Publications

• Zhu L (2026). [PMID: 41721346](https://pubmed.ncbi.nlm.nih.gov/41721346/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

• Thanuja B (2025). [PMID: 40088508](https://pubmed.ncbi.nlm.nih.gov/40088508/). *Pediatr Neurol*. [Epidemiology / Natural History]

• Lv X (2024). [PMID: 39061374](https://pubmed.ncbi.nlm.nih.gov/39061374/). *Brain Sci*. [Review / Meta-Analysis]