Term Name: | mucolipidosis III gamma |
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Synonyms: | |
Definition: | A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. |
Ontology: | Human Disease [DOID:0080678] ( DOID:0080678 ) |