Phenotype #0000350813

Individual ID	00465275
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	-
Phenotype details	see paper; ..., deceasaed (fetus); MRI brain cystic post-fossa (antenatal scan); double outlet right ventricle, transposition great arteries, ventricular septal defect, hypoplastic pulmonary valve with pulmonary stenosis; cleft lip and palate, cystic abdominal mass, lung hypoplasia
Inheritance	Familial, autosomal recessive
Age/Examination	<0d
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-05-05 17:43:47 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD