label: Mucolipidosis Type III Gamma
label_lc: mucolipidosis type iii gamma
description: An autosomal recessive condition caused by mutation(s) in the GNPTAG gene, encoding N-acetylglucosamine-1-phosphotransferase subunit gamma. It is characterized by a slowing of the growth rate in childhood, joint stiffness, mild cognitive impairment, and cardiorespiratory insufficiency.