Features include always present findings: Centrally nucleated skeletal muscle fibers, Delayed ability to walk, Myopathy, and Delayed ability to stand and others.

DPM3 encodes dolichyl-phosphate mannosyltransferase subunit 3, regulatory (92 aa). Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the endoplasmic reticulum Highest expression in Pituitary (101.0 TPM) and Thyroid (86.4 TPM).

Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 is associated with mutations in the DPM3 gene on chromosome 1.

The DPM3 protein participates in Defective DPM3 causes DPM3-CDG, Synthesis of dolichyl-phosphate mannose, and Defective DPM2 causes DPM2-CDG pathways.

DPM3 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for DPM3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 has been reported in the published literature.

Phenotype severity distribution: 9 always present features.

No clinical trials have been registered for muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15.

101 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15. Kisho has analyzed 79 by research type. Research spans Review / Meta-Analysis (38%), Basic Science / Preclinical (27%), and Case Report / Case Series (11%).