Global Variome shared LOVD

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

Phenotype #0000288507 Individual ID 00395307 Associated disease FOP Phenotype details see paper; ..., 2y-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; proximal medial tibial osteochondromas; thumb malformations (short 1st metacarpal, +/- monophalangism); sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment; childhood glaucoma; Diagnosis/Initial fibrodysplasia ossificans progressiva plus 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.