Phenotype #0000000304

Malaysian Node of the Human Variome Project Database

LOVD v.3.0 Build 30 [ Current LOVD status ]
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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
Created by	Nur Aisyah Athirah
Date created	2021-07-15 14:46:09 +08:00 (CST)
Date last edited	2021-07-25 13:24:48 +08:00 (CST)