Global Variome shared LOVD

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Phenotype #0000288521 Individual ID 00395321 Associated disease FOP Phenotype details see paper; ..., 4m-onset heterotopic ossification; characteristic malformations right 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; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of left digits ; absent finger/toe nails in left digits with severe reduction deficits; hypospadias; 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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-12-05 10:19:51 +01:00 (CET) Date last edited N/A

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