Features include always present findings: Hypoplasia of the brainstem, Seizure, Motor delay, and Type II lissencephaly and others; and common findings: Occipital encephalocele, Low muscle tone (hypotonia), Hypoplasia of the corpus callosum, and Damage to the optic nerve (optic atrophy). 23 total HPO annotations.

LAMB1 encodes laminin subunit beta 1 (1,786 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 extracellular matrix components. Highest expression in Cells Cultured fibroblasts (416.2 TPM) and Nerve Tibial (271.7 TPM).

Cobblestone lissencephaly without muscular or ocular involvement has been associated with mutations in the LAMB1 gene on chromosome 7.

LAMB1 is classified as a druggable target (Druggable Genome category) with score 4.4.

Genetic testing for LAMB1 is available. Testing is considered supportive for diagnosis.

Phenotype severity distribution: 9 always present features, 4 common features.

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

No clinical trials have been registered for cobblestone lissencephaly without muscular or ocular involvement.

296 publications have been identified in PubMed for cobblestone lissencephaly without muscular or ocular involvement. Kisho has analyzed 47 by research type. Research spans Review / Meta-Analysis (62%), Other (23%), and Case Report / Case Series (6%).