Human genes for mucolipidosis II alpha/beta
Mucolipidosis II alpha/beta [DOID:0080070]
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.
Synonyms: mucolipidosis II alpha/beta, DOID:0080070, I-cell disease, inclusion-cell disease, mucolipidosis II ...