Human genes for mucopolysaccharidosis type IIIA
Mucopolysaccharidosis type IIIA [DOID:0111395]
A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in SGSH on chromosome 17q25.3.
Synonyms: mucopolysaccharidosis type IIIA, DOID:0111395, mucopolysaccharidosis type IIIAs, heparan sulfamidase deficiency, MPS3A ...