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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-05-05 17:43:47 +02:00 (CEST)
Date last edited N/A

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