Global Variome shared LOVD

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Phenotype #0000288519 Individual ID 00395319 Associated disease FOP Phenotype details see paper; ..., 2y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; 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; 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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