Phenotype #0000310139

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00418842
Associated disease	EXT2
Phenotype details	multiple exostoses (HP:0002762); right arm humerus; exostoses hand (HP:0004276), bilateral phalanges; exostoses leg, bilateral femur/thigh bones, bilateral fibula, bilateral tibia/shin bone; exostoses chest, right scapula
Diagnosis/Initial	multiple exostoses
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	EXT2
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-07 17:02:55 +02:00 (CEST)
Date last edited	N/A

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