Phenotype #0000210174

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00275558
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	VCRL2
Phenotype details	vertebral segmentation defects; hypoplastic left heart; solitary kidney, chronic kidney disease; shortened long bones; normal hearing/ears, no hearing defect; short stature, speech delay
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	2020-01-08 16:55:31 +01:00 (CET)
Date last edited	N/A

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