|OBO ID: DOID:0080070|
|Term Name:||mucolipidosis II alpha/beta||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0080070)|
|is a type of:||
OTHER mucolipidosis II alpha/beta PAGES
PHENOTYPE No data available
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