Features include always present findings: Bilateral tonic-clonic seizure, Pachygyria, and Polymicrogyria; and common findings: Visual loss, Global developmental delay, and Focal impaired awareness automatism seizure. 7 total HPO annotations.

LAMC3 encodes laminin subunit gamma 3 (1,575 aa). Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other ext... Highest expression in Cervix Endocervix (54.7 TPM) and Cervix Ectocervix (48.6 TPM).

Occipital pachygyria and polymicrogyria is associated with mutations in the LAMC3 gene on chromosome 9.

LAMC3 is classified as a druggable target (Druggable Genome category) with score 1.4.

Genetic testing for LAMC3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for occipital pachygyria and polymicrogyria has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 3 common features.

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

No clinical trials have been registered for occipital pachygyria and polymicrogyria.

112 publications have been identified in PubMed for occipital pachygyria and polymicrogyria. Research spans Basic Science / Preclinical (52%), Review / Meta-Analysis (13%), and Case Report / Case Series (12%).