Phenotype #0000355027

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00469882
Associated disease	skeletal dysplasia
Diagnosis/Initial	skeletal dysplasia
Diagnosis/Definite	PPRD
Phenotype details	-
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-20 12:33:13 +01:00 (CET)
Date last edited	N/A

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