Features include always present findings: Delayed speech and language development, Cerebellar hypoplasia, Seizure, and Global developmental delay and others; and very common findings: Low muscle tone (hypotonia). 10 total HPO annotations.

OXR1 encodes oxidation resistance 1 (874 aa). May be involved in protection from oxidative damage Highest expression in Brain Frontal Cortex BA9 (46.5 TPM) and Brain Cerebellar Hemisphere (43.8 TPM).

Isolated cerebellar hypoplasia/agenesis is associated with mutations in the OXR1 gene on chromosome 8.

OXR1 is classified as a druggable target with score 0.0.

Genetic testing for OXR1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for isolated cerebellar hypoplasia/agenesis has been reported in the published literature.

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

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for isolated cerebellar hypoplasia/agenesis.

309 publications have been identified in PubMed for isolated cerebellar hypoplasia/agenesis. Kisho has analyzed 54 by research type. Research spans Other (37%), Review / Meta-Analysis (31%), and Basic Science / Preclinical (15%).