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galactosialidosis

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galactosialidosis
GM1 gangliosidosis AR condition due to a defective gene on chromosome 10, resulting in neuroaminidase and β-galactosidase deficiencies Clinical Neonatal onset with mental and physical retardation, seizures, visual defects, deafness, gargoyle facies, corneal clouding, and a cherry red spot of the macula. See Cherry red spots.


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