Global Variome shared LOVD

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Phenotype #0000343609 Individual ID 00455012 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite NEM2 Phenotype details see paper; ..., reduced fetal movements; developmental delay, 2y-inability to climb stairs; facial and limb-girdle muscle weakness; atrophy vastus lateralis/gluteal muscles; joint Laxity elbows, wrists, ankles; no contractures; serum creatinine kinase normal; EMG 15y-myopatic; echocardiogram 22y-normal; electrocardiogram 22y-normal; 10y-high-arched, narrow palate, facial weakness, atrophic gluteal muscles, proximal more than distal muscle weakness, positive Gowers’ maneuver Inheritance Familial, autosomal recessive Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-10-01 09:25:40 +02:00 (CEST) Date last edited N/A

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