Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000080869 Individual ID 00102728 Associated disease epilepsy Phenotype details Macrocephaly (1y); refractory epilepsy with progressive cognitive regression (6y); bilateral strabismus; with normal strength and without muscle complaints (able to run, climb stairs and run) at 21y; brain MRI: white matter changes and occypital agyria. Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein IHC LAMA2 partially absent Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Jorge Oliveira Date created 2017-04-01 23:31:44 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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