Human genes for mucopolysaccharidosis IVA
Mucopolysaccharidosis IVA [DOID:0111391]
A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in GALNS on chromosome 16q24.3.
Synonyms: mucopolysaccharidosis IVA, DOID:0111391, mucopolysaccharidosis IVAs, GALNS deficiency, Morquio A disease ...