mucolipidosis II alpha/beta (DOID:0080070)
Alliance: disease page
Synonyms: I-cell disease; inclusion-cell disease; mucolipidosis II
Alt IDs: OMIM:252500
Definition: A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene.