Phenotypes for disease #00138 (TSD (Tay-Sach Disease), OMIM:272800)

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Individual ID     
0000000277 He had spastic quadriplegia, decreased eye contact and hyperacusis. Ophthalmic assessment confirmed severe visual impairment and fundoscopic examination revealed bilateral retinal ‘cherry-red spots’ - Nur Aisyah Athirah 00000742
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