Global Variome shared LOVD

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Phenotype #0000292051 Individual ID 00398962 Associated disease MYOP Phenotype details newborn hypotonia; 2y6m-walk; no ptosis; no ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, no distal weakness; 14y-nocturnal noninvasive ventilation; scoliosis (16y-surgery); 19y-no cardiac involvement Diagnosis/Initial congenital myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset 1d Phenotype/Onset newborn hypotonia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-01-14 16:20:15 +01:00 (CET) Date last edited N/A

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