Phenotype #0000000222

Malaysian Node of the Human Variome Project Database

LOVD v.3.0 Build 30 [ Current LOVD status ]
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Individual ID	00000621
Associated disease	EPVB6D
Phenotype details	Seizure onset: <24h, Seizure type: GTC, myoclonic, Delay of motor development: right hemiparalysis and dystonic posture, Delay of speech development, profound Intellectual disability, Brain MRI: Broad gyri and shallow sulci, microcephaly with underdevelopment of white matter; periventricular cyst
Inheritance	-
Owner name	Nur Aisyah Athirah
Database submission license
Created by	Nur Aisyah Athirah
Date created	2021-05-10 11:23:38 +08:00 (CST)
Date last edited	2021-08-01 12:33:41 +08:00 (CST)