|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly. (Orphanet Rare Disease Ontology, Orphanet_576)|
|Downloads & Tools|
1 genes associated with the I cell disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|GNPTAB||N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits|