Phenotype #0000000277

Individual ID 00000742
Associated disease TSD
Phenotype details He had spastic quadriplegia, decreased eye
contact and hyperacusis. Ophthalmic assessment confirmed severe visual impairment and fundoscopic examination revealed bilateral retinal ‘cherry-red spots’
Inheritance -
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah

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