Term Name:	mucolipidosis II alpha/beta
Synonyms:	I-cell disease, inclusion-cell disease, mucolipidosis II
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.
Ontology:	Human Disease [DOID:0080070]   ( DOID:0080070 )