Term Name:	mucolipidosis III gamma
Synonyms:
Definition:	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.
Ontology:	Human Disease [DOID:0080678]   ( DOID:0080678 )