Global Variome shared LOVD

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Phenotype #0000292008 Individual ID 00398919 Associated disease MYOP Phenotype details weakness; 1y-walk, run; no ptosis; ophthalmoplegia; facial weakness; no flexor weakness; proximal weaksness, no distal weakness; 12y-no cardiac involvement Diagnosis/Initial congenital myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset 12m Phenotype/Onset weakness 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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