Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000288516 Individual ID 00395316 Associated disease FOP Phenotype details see paper; ..., 2y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; 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 digits; absent finger/toe nails in digits with severe reduction deficits; sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment; anatomic abnormalities of cerebellum; 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.