Features include always present findings: Poor head control, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Generalized hypotonia, and Enlarged brain ventricles (ventriculomegaly) and others; and common findings: Cataract, Buphthalmos, and High myopia. 25 total HPO annotations.

DAG1 encodes dystroglycan 1 (895 aa). The dystroglycan complex is involved in a number of signaling events and processes including laminin deposition and extracellular matrix assembly, acetylcholine receptor clustering, sarcolemmal stability, cell survival, peripheral nerve myelination, nodal structure, cell migration, epithelial polarization, and epithelium branching morphogenesis. Highest expression in Nerve Tibial (118.7 TPM) and Artery Tibial (71.1 TPM).

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 is associated with mutations in the DAG1 gene on chromosome 3.

The DAG1 protein participates in DAG1 glycosylations pathway.

DAG1 is classified as a druggable target (Druggable Genome, External Side Of Plasma Membrane, and Transporter categories) with score 52.2.

Genetic testing for DAG1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 has been reported in the published literature.

Phenotype severity distribution: 11 always present features, 3 common features.

No clinical trials have been registered for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9.

73 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9. Research spans Basic Science / Preclinical (32%), Case Report / Case Series (28%), and Review / Meta-Analysis (21%).