mucolipidosis III gamma (DOID:0080678)
Alliance: disease page
Alt IDs: OMIM:252605, MESH:C565367, ORDO:423470
Definition: A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay.