Global Variome shared LOVD

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

Phenotype #0000203485 Individual ID 00265700 Associated disease arthrogryposis Inheritance Familial, autosomal recessive Diagnosis/Initial arthrogryposis Age/Examination 00y18m (18 months) Diagnosis/Definite Congenital titinopathy Age/Diagnosis - Age/Onset 00y00m00d00h Phenotype/Onset - Phenotype details Hypotonia, contractures of fingers, wrists, ankles, elbows, knees, shoulders, hips. Congenital fractures. Severe restrictive lung disease, retrognathia, needing BIPAP support, recurent chest infections. Died at 2 years due to inability to maintain airway. Protein - Owner name Sandra Cooper Database submission license No license selected Created by Sandra Cooper Date created 2019-10-01 03:04:17 +02:00 (CEST) Date last edited 2019-10-11 14:58:25 +02:00 (CEST)

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