Mucolipidosis type II

Definition

Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.

Also known as I Cell Disease, I-cell disease, mucolipidosis type II, mucolipidosis type II alpha/beta, N-acetylglucosamine 1-phosphotransferase deficiency — per MONDO

Also identified as

• DOID 0080070 per MONDO
• MESH C538602 per MONDO
• NCIT C61270 per MONDO
• OMIM 252500 per MONDO
• Orphanet 576 per MONDO
• SCTID 70199000 per MONDO
• UMLS C2673377 per MONDO