Phenotype #0000288516

Individual ID	00395316
Associated disease	FOP
Phenotype details	see paper; ..., 2y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment; anatomic abnormalities of cerebellum;
Diagnosis/Initial	fibrodysplasia ossificans progressiva variant
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