Phenotype #0000000304

Individual ID 00000787
Associated disease -
Phenotype details 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
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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