Global Variome shared LOVD

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Phenotype #0000081285 Individual ID 00101385 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Arthrogryposis multiplex congenita, clenched hands, micrognathia, respiratory insufficiency and permanent assisted ventilation. Strongly diminished spontaneous movement of the upper limbs. Spontaneous movement absent from lower limbs. Diminished head control, pectus excavatum. EMG with neurogenic pathology and signs of denervation. Inheritance Isolated (sporadic) Age/Examination 00y () Age/Diagnosis - Age/Onset - Phenotype/Onset congenital Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Markus Storbeck Database submission license No license selected Created by Markus Storbeck Date created 2017-04-08 12:56:53 +02:00 (CEST) Date last edited 2017-04-11 14:55:55 +02:00 (CEST)

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