" /> Tay-Sachs Disease - CISMeF





Preferred Label : Tay-Sachs Disease;

NCIt synonyms : Tay Sachs Disease;

NCIt definition : A rare, fatal, autosomal recessive lipid storage disorder caused by mutations in the HEXA gene. It is characterized by deficiency of beta-hexosaminidase A, resulting in accumulation of gangliosides in the neurons of the brain and spinal cord. Signs and symptoms include progressive deterioration of the mental and physical abilities early in life, accompanied by blindness, deafness, muscle atrophy, and paralysis.;

Codes from synonyms : E75.02;

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31/07/2025


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