Global Variome shared LOVD

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

Phenotype #0000203178 Individual ID 00265386 Associated disease arthrogryposis Inheritance Familial, autosomal recessive Diagnosis/Initial arthrogryposis Age/Examination 35y (35 years) Diagnosis/Definite Congenital titinopathy Age/Diagnosis - Age/Onset 00y00m00d00h Phenotype/Onset - Phenotype details Presented at birth with multiple joint contractures and reduced muscle bulk. Elongated face. Protein - Owner name Sandra Cooper Database submission license No license selected Created by Sandra Cooper Date created 2019-09-24 09:56:21 +02:00 (CEST) Date last edited 2019-09-27 10:43:47 +02:00 (CEST)

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