Global Variome shared LOVD

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Phenotype #0000288526 Individual ID 00395326 Associated disease FOP Phenotype details see paper; ..., 1-10y-onset heterotopic ossification; 1.00 characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); 1.00 progressive heterotopic ossification in characteristic anatomic patterns; 0.50 conductive hearing impairment; 0.80 cervical spine malformations i(ntra-articular ankylosis facet joints, early degenerative changes cervical spine); 0.90 proximal medial tibial osteochondromas; 0.70 short broad femoral necks; 0.50 thumb malformations (short 1st metacarpal, +/- monophalangism) Diagnosis/Initial classic fibrodysplasia ossificans progressiva 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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