mucolipidosis III gamma

Term ID

DOID:0080678

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. https://pubmed.ncbi.nlm.nih.gov/10712439/

References

• MESH:C565367
• MIM:252605
• ORDO:423470

Ontology

Human Disease   ( DOID:0080678 )