Global Variome shared LOVD

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Phenotype #0000325243 Individual ID 00435001 Associated disease EDSCL1 Diagnosis/Initial cEDS Diagnosis/Definite - Phenotype details Bilateral club feet, bilateral pes adductus, central coordination disturbance, and asymmetry of posture and tonus were noted and retrospectively attributed to joint hypermobility. Hypermobility of the ankles as a baby, recurring luxation of the patella and chronic joint pain at the age of four years, bluish discolorations on her shins and forearms, skin was very soft and hyperelastic; multiple subcutaneous papules and few atrophic scars. Inheritance Familial Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Nassim Louail Database submission license Creative Commons Attribution 4.0 International Created by Nassim Louail Date created 2023-04-19 01:57:18 +02:00 (CEST) Date last edited 2023-05-02 16:48:41 +02:00 (CEST)

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