Phenotype #0000038744

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00052125
Associated disease	KLEFS
Intellectual_dis	-
Diagnosis/Initial	-
Phenotype details	9q subtelomeric deletion syndrome; weight >95th, height >>95th, OFC 50th; childhood hypotonia, facial dysmorphism; Tetralogy of Fallot, no epilepsy, mixed hearing loss, umbilical hernia
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Birth_Details	weight 3800 (75-90th)
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-10-16 13:03:02 +02:00 (CEST)
Date last edited	N/A

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