Global Variome shared LOVD

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Phenotype #0000203175 Individual ID 00265383 Associated disease arthrogryposis Inheritance Familial, autosomal recessive Diagnosis/Initial arthrogryposis Age/Examination 22y (22 years) Diagnosis/Definite Congenital titinopathy Age/Diagnosis - Age/Onset 00y00m00d00h Phenotype/Onset - Phenotype details Presented at birth with hypotonia and arthrogryposis multiplex congenita. Age 22 yr - Wheelchair user with some support function in left leg. Face long/asymmetric, Normal facialis/extraorbital muscles, high palate, neckflaxion almost 0. Paraspinal/abdominal 0. Ul prox 2 (MRC 0-10), Ul wrist 5, fingers 6, LLprox 2, knee 3, LLdist 5. Contractures elbow, wrist, fingers, knee, ankles (hip surgery). Protein - Owner name Sandra Cooper Database submission license No license selected Created by Sandra Cooper Date created 2019-09-24 09:21:25 +02:00 (CEST) Date last edited 2019-09-27 10:39:50 +02:00 (CEST)

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