Features include sometimes findings: Low muscle tone (hypotonia) and Generalized hypotonia. 18 total HPO annotations.

LAMA1 encodes laminin subunit alpha 1 (3,075 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 Testis (22.3 TPM) and Cells Cultured fibroblasts (17.2 TPM).

Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome is associated with mutations in the LAMA1 gene on chromosome 18.

LAMA1 is classified as a druggable target (Druggable Genome category) with score 1.4.

Genetic testing for LAMA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome has been reported in the published literature.

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

No clinical trials have been registered for ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome.

11 publications have been identified in PubMed for ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome. Research spans Case Report / Case Series (82%), Diagnostic / Biomarker (9%), and Review / Meta-Analysis (9%).