Phenotypes for disease #00157 (Sandhoff Disease, OMIM:268800)

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0000000304 6-month history of psychomotor regression, exaggerated startle reaction to sound, and myoclonic seizures. Neurological examination revealed hypertonia, absent reflexes, and a weak muscle power. Ophthalmological examination showed the presence of bilateral “cherry red spots” in the retina - Nur Aisyah Athirah 00000787
0000000305 Presented at 8 months of age with hand tremors, unsteady gait, uprolling of eyes, and twitching of the mouth. She had regression of her milestones and generalized convulsions; her ophthalmological examination also revealed “cherry red spots”. She died at 17 months of age. - Nur Aisyah Athirah 00000788
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