Disease-gene associations mined from literature

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 ...