mucolipidosis II alpha/beta

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 th

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.

Signs and symptoms

• Global developmental delay
• Hypoplastic scapulae
• Megalocornea
• Beaking of vertebral bodies T12-L3
• Split hand
• Hoarse voice
• Cavernous hemangioma
• Palpebral edema
• Hip dislocation
• Recurrent otitis media

Also known as: I-cell disease; inclusion-cell disease; mucolipidosis II