Phenotype #0000172075

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00228163
Associated disease	-
Phenotype details	microcephaly, pachygyria, polymicrogyria, encephalopathy, abnormal cortical gyrus, corpus callosum agenesia, brain atrophy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	PEBAS
Age/Examination	01y (1 year)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Evren Gumus
Database submission license	No license selected
Created by	Evren Gumus
Date created	2019-03-19 14:48:11 +01:00 (CET)
Date last edited	2019-03-19 15:49:43 +01:00 (CET)

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