Global Variome shared LOVD

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Phenotype #0000323897 Individual ID 00433377 Associated disease EDSKSCL2 Phenotype details Thoracolumbar levokyphoscoliosis of the 2nd degree. Osteoporosis. Nephroptosis. Mild bilateral mixed hearing loss. Mixed bilateral astigmatism. Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis 02y Age/Onset 00y08m Phenotype/Onset - Protein - Owner name Nassim Louail Database submission license Creative Commons Attribution 4.0 International Created by Nassim Louail Date created 2023-03-07 02:40:20 +01:00 (CET) Date last edited 2023-03-08 13:07:31 +01:00 (CET)

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