Global Variome shared LOVD

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Phenotype #0000292042 Individual ID 00398953 Associated disease MYOP Diagnosis/Initial congenital myopathy Diagnosis/Definite - Phenotype details motor delay; 1y6m-walk, run; no ptosis; no ophthalmoplegia; facial weakness; no flexor weakness; proximal weaksness, no distal weakness; 18y-no cardiac involvement Inheritance Familial, autosomal dominant Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset 1y Phenotype/Onset motor delay 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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