mucolipidosis III gamma

A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTG gene, which encodes the gamma subunit of N-acetylgluc

A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTG gene, which encodes the gamma subunit of N-acetylglucosamine-1-phosphotransferase, on chromosome 16p13.

Signs and symptoms

• Flat capital femoral epiphysis
• Claw hand deformity
• Finger joint contracture
• Hyperlordosis
• Genu valgum
• Pes planus
• Joint stiffness
• Short neck
• Shoulder contracture
• Arthralgia