Features include always present findings: Global developmental delay, Motor delay, Severe intellectual disability, and Reduced social responsiveness and others; and very common findings: Microcephaly. 12 total HPO annotations.

LINGO1 encodes leucine rich repeat and Ig domain containing 1 (620 aa). Functional component of the Nogo receptor signaling complex (RTN4R/NGFR) in RhoA activation responsible for some inhibition of axonal regeneration by myelin-associated factors. Highest expression in Brain Cortex (92.5 TPM) and Brain Frontal Cortex BA9 (91.4 TPM).

Intellectual disability, autosomal recessive 64 is associated with mutations in the LINGO1 gene on chromosome 15.

LINGO1 is classified as a druggable target (Druggable Genome category) with score 26.1.

Genetic testing for LINGO1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal recessive 64 has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 1 very common feature, 5 common features.

No clinical trials have been registered for intellectual disability, autosomal recessive 64.

3 publications have been identified in PubMed for intellectual disability, autosomal recessive 64. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Epidemiology / Natural History (33%).

Recent Publications

• Ek M (2026). [PMID: 41514368](https://pubmed.ncbi.nlm.nih.gov/41514368/). *Genome Med*. [Diagnostic / Biomarker]

• Almutair A (2026). [PMID: 42267904](https://pubmed.ncbi.nlm.nih.gov/42267904/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]

• Sharkia R (2024). [PMID: 38927727](https://pubmed.ncbi.nlm.nih.gov/38927727/). *Genes (Basel)*. [Case Report / Case Series]