Phenotype #0000288529

Individual ID	00395329
Associated disease	FOP
Phenotype details	see paper; ..., birth severe reduction deformities all digits; 6y-lumps, usually painful, on occiput, stiff spine, stiff shoulders; 14y-both elbows and right hip ectopic ossification; 18y-left hip ectopic ossification; 20y-ossification jaw after dental extraction; 26y-complete spinal fixation, shoulders fixed in adduction, elbows fixed in flexion, hip movement restricted and fixed in slight flexion, jaw gape 0.3cm; mild cognitive impairment, diffuse scalp, 14y-onset hair thinning
Diagnosis/Initial	fibrodysplasia ossificans progressiva
Inheritance	Unknown
Diagnosis/Definite	FOP
Age/Examination	52y (52 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 10:44:39 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD