Global Variome shared LOVD

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

Phenotype #0000203486 Individual ID 00265701 Associated disease arthrogryposis Inheritance Familial, autosomal recessive Diagnosis/Initial arthrogryposis multiplex Age/Examination 02y (2 years) Diagnosis/Definite Congenital titinopathy Age/Diagnosis - Age/Onset 00y00m00d00h Phenotype/Onset - Phenotype details Hypotonia. General developmental delay. NG tube fed. Difficult airway grade 3. Contractures involving fingers, wrists, ankles, elbows, knees, shoulders, hips. Severe restrictive lung disease, retrognathia, needing BIPAP support, recurent chest infections. Protein - Owner name Sandra Cooper Database submission license No license selected Created by Sandra Cooper Date created 2019-10-01 03:29:48 +02:00 (CEST) Date last edited 2019-10-11 14:59:40 +02:00 (CEST)

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