Phenotype #0000288552

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00395352
Associated disease	FOP
Phenotype details	heterotopic ossification over back and spine, arms and neck immobile, arms tethered to thorax; presented after injury at school, serious fall owing to inability to protect with arms, developed large swelling over right eye
Diagnosis/Initial	fibrodysplasia ossificans progressiva
Inheritance	Unknown
Diagnosis/Definite	FOP
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-12-05 11:56:31 +01:00 (CET)
Date last edited	N/A

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