mucopolysaccharidosis type IIIA (DOID:0111395)
Alliance: disease page
Synonyms: heparan sulfamidase deficiency; MPS3A; MPSIIIA; mucopolysaccharidosis III-A; mucopolysaccharidosis type 3A; mucopolysaccharidosis type IIIA (Sanfilippo A); Sanfilippo syndrome type A
Alt IDs: OMIM:252900, ICD10CM:E76.22, MESH:D009084, NCI:C84897, ORDO:79269, UMLS_CUI:C0086647
Definition: 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 the SGSH gene on chromosome 17q25.3.