Phenotype #0000210216

Individual ID 00275605
Associated disease ?
Diagnosis/Initial multiple organ defects
Diagnosis/Definite VCRL3
Phenotype details see paper; ..., scoliosis with multiple malformed vertebral anomalies and rib abnormalities; double outlet right ventricle, transposition of the great arteries in side by side orientation, doubly committed ventricular septal defect, bidirectional patent ductus arteriosu, left aortic arch; mild hyperechoic renal cortex; birth length: 45.5 cm, short proximal long bones, bowing of lower extremities; closed sacral dimple with tuft of hair
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 2020-01-11 09:04:48 +01:00 (CET)
Date last edited 2020-12-02 09:39:58 +01:00 (CET)

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