Phenotype #0000081286

Individual ID 00101386
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Congenital arthrogryposis multiplex, hypotonia, repiratory failure with lethal outcome. Muscle biopsy with severe myopathic features with atrophy, hypotrophic and necrotic fibers. Advanced myofibrillar breakdown ín EM analysis.
Inheritance Isolated (sporadic)
Age/Examination 00y ()
Age/Diagnosis -
Age/Onset 00y
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 13:02:31 +02:00 (CEST)
Date last edited 2017-04-11 14:57:58 +02:00 (CEST)

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