Global Variome shared LOVD

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Phenotype #0000203173 Individual ID 00265381 Associated disease arthrogryposis Inheritance Familial, autosomal recessive Diagnosis/Initial arthrogryposis Age/Examination 01y (1 year) Diagnosis/Definite Congenital titinopathy Age/Diagnosis 02y Age/Onset 00y00m00d00h Phenotype/Onset - Phenotype details Presented postnatally with generalized hypotonia, feeding difficulties and arythrogryposis, predominantly proximal with ulnar deviation at the wrists. Protein - Owner name Sandra Cooper Database submission license No license selected Created by Sandra Cooper Date created 2019-09-24 08:47:06 +02:00 (CEST) Date last edited 2019-09-27 10:33:39 +02:00 (CEST)

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