Features include always present findings: Telecanthus, Microcornea, Chorioretinal degeneration, and Posteriorly rotated ears and others; and common findings: Broad nasal tip. 8 total HPO annotations.

ADAMTS18 encodes ADAM metallopeptidase with thrombospondin type 1 motif 18 (1,221 aa). Highest expression in Brain Cerebellar Hemisphere (29.1 TPM) and Brain Cerebellum (24.5 TPM).

Microcornea-myopic chorioretinal atrophy is caused by mutations in the ADAMTS18 gene on chromosome 16.

ADAMTS18 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 0.9.

11 pathogenic variants reported in ADAMTS18 in ClinVar.

Genetic testing for ADAMTS18 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for microcornea-myopic chorioretinal atrophy has been reported in the published literature.

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

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for microcornea-myopic chorioretinal atrophy.

252 publications have been identified in PubMed for microcornea-myopic chorioretinal atrophy. Research spans Case Report / Case Series (47%), Review / Meta-Analysis (15%), and Epidemiology / Natural History (14%).