Phenotype #0000272452

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00377300
Associated disease	CHD
Inheritance	Familial
Diagnosis/Initial	TAB2 haploinsufficiency
Age/Examination	-
Diagnosis/Definite	TAB2 haploinsufficiency
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	Facial features; Cardiovascular Features; Musculoskeletal features; Skin features.
Protein	-
Owner name	Lucia Micale
Database submission license
Created by	Lucia Micale
Date created	2021-07-21 15:46:27 +02:00 (CEST)
Date last edited	2021-07-21 16:31:40 +02:00 (CEST)

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