Phenotype #0000227552

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00300250
Associated disease	NLS2
Phenotype details	HP:0001511, HP:0000340, HP:0000470, HP:0000347, HP:0000252, HP:0001371, HP:0001838,HP:0000175, HP:0001317, HP:0100679
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	p.(Arg319Aspfs*14)
Owner name	Fatima Abdelfattah
Database submission license	No license selected
Created by	Fatima Abdelfattah
Date created	2020-04-24 15:14:04 +02:00 (CEST)
Date last edited	2020-04-26 11:09:17 +02:00 (CEST)

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