Phenotype #0000144107

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00183368
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	see paper; intellectual disability, congenital heart defects, characteristic facial dysmorphism, ...
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Joshi Stephen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2018-10-25 07:07:10 +02:00 (CEST)
Date last edited	2018-12-08 11:08:01 +01:00 (CET)

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