Phenotype #0000238671

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00314913
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Bicuspid aortic valve, bilateral coronal craniosynostoses, dysmorphic features, quadriplegic cerebral palsy, bilateral inguinal hernias, G-tube placement, obstructive sleep apnea, and severe intellectual disability.
Inheritance	Isolated (sporadic)
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-20 15:09:17 +02:00 (CEST)
Date last edited	N/A

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