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
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)

Global Variome shared LOVD