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Beta-mannosidosis

Disease Beta ketothiolase deficiencyBeta-thalassemia

What is beta-mannosidosis?
Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.

 


Beta-mannosidosis is believed to be a very rare disorder. Approximately 20 affected individuals have been reported worldwide.

Beta-mannosidosis ... hearing problems
Bilateral Renal Agenesis ... large ears, low-set ears
Bindewald-Ulmer-Muller syndrome ... large ear
Biotinidase deficiency ... hearing loss
Biotinidase deficiency, late onset ... hearing loss ...

Akaba-Hayasaka syndrome 5. Angiokeratoma 6. Atkin-Flatiz syndrome 7. Baraitser-Winter syndrome 8. Beta-mannosidosis 9. Borrone-Di Rocco-Crovato syndrome 10. Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia ...

See also: Mannosidosis, Infections, Neuropathy, Seizure, Deficiency

Disease Beta ketothiolase deficiencyBeta-thalassemia

 
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