Global Variome shared LOVD

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Phenotype #0000288569 Individual ID 00395369 Associated disease FOP Phenotype details see paper; ..., typical great toe malformation, short thumbs/clinodactyly/cervical spine fusions, broad femoral necks/knee osteochondroma; 0.8y-ectopic ossification neck, 8 lesions; light deafness; hypertrichosis Diagnosis/Initial classic fibrodysplasia ossificans progressiva Inheritance Unknown Diagnosis/Definite FOP Age/Examination 12y (12 years) Age/Diagnosis 5y2m 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 12:53:42 +01:00 (CET) Date last edited N/A

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