mucolipidosis II alpha/beta

Term ID

DOID:0080070

Synonyms

• I-cell disease
• inclusion-cell disease
• mucolipidosis II

Definition

A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene. (6)

References

• GARD:6749
• OMIM:252500

Ontology

Human Disease   ( DOID:0080070 )