Mucolipidosis Type III Gamma

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - Mucolipidosis III Gamma