Phenotype #0000227091

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00299709
Associated disease	?
Diagnosis/Initial	congenital heart disease
Diagnosis/Definite	-
Phenotype details	scaphocephaly, short, upslanted palpebral fissures, hypertelorism, mild neurodevelopmental delay, pulmonary valve stenosis, small ASD, PDA
Inheritance	Familial, autosomal recessive
Age/Examination	09y (9 years)
Age/Diagnosis	09y
Age/Onset	00y00m01d
Phenotype/Onset	congenital heart disease
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Aida Bertoli-Avella
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2020-04-21 09:57:15 +02:00 (CEST)
Date last edited	N/A

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