Phenotype #0000000305

Individual ID 00000788
Associated disease -
Phenotype details 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.
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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