Phenotype #0000288504

Individual ID	00395304
Associated disease	FOP
Phenotype details	see paper; ..., 3y-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; aplastic anemia;
Diagnosis/Initial	fibrodysplasia ossificans progressiva plus
Inheritance	Unknown
Diagnosis/Definite	FOP
Age/Examination	-
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 10:19:51 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD