Global Variome shared LOVD

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Phenotype #0000288514 Individual ID 00395314 Associated disease FOP Phenotype details see paper; ..., 13y-onset heterotopic ossification, mild heterotopic ossification, exacerbation following trauma, intra-articular synovial osteochondromatosis hip, no radiographic anomalies cervical spine; progressive heterotopic ossification in characteristic anatomic patterns, no congenital malformation great toe, ; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); mother mild orthotopic changes in C-spine, daughters do not; intra-articular synovial osteochondromatosis of hips, DJD hips; Diagnosis/Initial fibrodysplasia ossificans progressiva variant Inheritance Familial, autosomal dominant 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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