Angiokreatoma The initial affected individual described in 1986 had a complex phenotype, and was later found to have both<unk>  and Sanfilippo syndrome. People have been described with a wide spectrum of clinical presentations from infants and children with intellectual disability to adults who present with isolated skin findings (angiokeratomas). Most cases are identified in the first year of life with respiratory infections, hearing loss and intellectual disability. Because of its rarity, and non-specific clinical findings,<unk>  can go undiagnosed until adulthood, where it can present with intellectual disability and behavioral problems, including aggression.
Beta-mannosidosis
Alpha-mannosidosis
Galactosialidosis
Aspartylglucosaminuria
Glycosuria
Essential fructosuria
Alkaptonuria
Hawkinsinuria