Phenotype #0000000209

Malaysian Node of the Human Variome Project Database

LOVD v.3.0 Build 30 [ Current LOVD status ]
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Individual ID	00000597
Associated disease	INAD
Phenotype details	developmental regression starting from the age of 1 year 5 months, bilateral convergent strabismus, central hypotonia, dystonia, tremors, generalized hyper-reflexia and extensor plantar responses, bilateral optic atrophy
Inheritance	-
Owner name	Nur Aisyah Athirah
Database submission license
Created by	Nur Aisyah Athirah
Date created	2021-04-27 15:32:03 +08:00 (CST)
Date last edited	2021-08-01 14:13:53 +08:00 (CST)