Phenotype #0000288551

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00395351
Associated disease	FOP
Phenotype details	completely immobile, only able to move eyes and tongue; profound iron deficiency anaemia owing to diet of tea and bread as unable to open mouth and chew, thoracic insufficiency syndrome, pulmonary hypertension
Diagnosis/Initial	fibrodysplasia ossificans progressiva
Inheritance	Unknown
Diagnosis/Definite	FOP
Age/Examination	47y (47 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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