Global Variome shared LOVD

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Phenotype #0000129795 Individual ID 00164777 Associated disease EDS Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination 35y (35 years) Diagnosis/Definite - Age/Onset - Phenotype/Onset - Phenotype details Joint hypermobility, Dislocations, Hyperextensible skin, Redundant skin, Poor wound healing, Atypical scarring of skin, Bruising susceptibility, Mitral valve prolapse, Severe osteopenia, Structural foot deformity, cryptorchidism, motor delay, impaired temperature sensation, keratoconjuncitivitis sicca, Piezogenic pedal papules Hearing/Loss nr Protein - CK-level - EMG - Muscle/Biopsy - Age/Diagnosis - Owner name Moritz Hebebrand Database submission license Creative Commons Attribution 4.0 International Created by Moritz Hebebrand Date created 2018-06-12 14:57:53 +02:00 (CEST) Date last edited 2018-06-21 12:46:54 +02:00 (CEST)

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