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GTR Home > Conditions/Phenotypes > Deficiency of N-acetylglucosamine-1-phosphotransferase

Deficiency of N-acetylglucosamine-1-phosphotransferase

Summary

An inherited lysosomal storage disease characterized by the presence of dense intracytoplasmic inclusions in mesenchymal cells, especially fibroblasts. Signs and symptoms include developmental delay, psychomotor deterioration, and growth failure. [from NCI]

Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (8 available)

Biochemical Genetics Tests

Molecular Genetics Tests

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