Features include always present findings: Hearing loss (hearing impairment), Moderate intellectual disability, Gait ataxia, and Spastic gait and others; and very common findings: Low muscle tone (hypotonia) and Microcephaly. 49 total HPO annotations.

NSUN2 encodes NOP2/Sun RNA methyltransferase 2 (767 aa). RNA cytosine C(5)-methyltransferase that methylates cytosine to 5-methylcytosine (m5C) in various RNAs, such as tRNAs, mRNAs and some long non-coding RNAs (lncRNAs). Highest expression in Cells EBV-transformed lymphocytes (100.6 TPM) and Cells Cultured fibroblasts (71.2 TPM).

Intellectual disability, autosomal recessive 5 is associated with mutations in the NSUN2 gene on chromosome 5.

NSUN2 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for NSUN2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal recessive 5 has been reported in the published literature.

Phenotype severity distribution: 12 always present features, 2 very common features, 9 common features.

No clinical trials have been registered for intellectual disability, autosomal recessive 5.

95 publications have been identified in PubMed for intellectual disability, autosomal recessive 5. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (27%), and Epidemiology / Natural History (13%).