Global Variome shared LOVD

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Phenotype #0000156215 Individual ID 00035661 Associated disease ? Diagnosis/Initial congenital myasthenic syndrome? Diagnosis/Definite - Phenotype details suspected CMS; fatigue, hypotonia, ptosis; MGZ #47782: suspected Pena-Shokeir syndrome; MGZ #52958: 2 still-born sons (6. SSM) with akinesia syndrome; (parents are cousins, consanguine also with relatives); MGZ #53591: suspected myast. Syndrome Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2015-04-02 13:01:39 +02:00 (CEST) Date last edited N/A

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