Phenotype #0000081289

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00103212
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	see paper, 2 sibs, epilepsy, hearing loss, developmental delay, early death
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	<00y01m
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Sander Pajusalu
Database submission license
Created by	Sander Pajusalu
Date created	2017-04-09 20:09:06 +02:00 (CEST)
Date last edited	2017-04-11 15:12:18 +02:00 (CEST)

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