Phenotype #0000326306

Individual ID 00436122
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details see paper; ..., aortic hypoplasia, atrial septal defect, ventricular septal defect, mitral valve stenosis, dilatation pulmonary trunk and ductus arteriosus; no renal anomalies; shortening all extremities Mild facial dysmorphism, hypertelorism, prominent folds at the inner sides of the eyes, ventriculomegaly with unaffected cerebellum
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2023-08-11 10:19:30 +02:00 (CEST)
Date last edited N/A

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