Global Variome shared LOVD

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Phenotype #0000343610 Individual ID 00455013 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite NEM2 Phenotype details see paper; ..., reduced fetal movements, weak suck at birth; developmental delay, 16m-walk; facial and limb-girdle muscle weakness; atrophy gluteal muscles; joint laxity fingers; contractures Achilles tendons (R>L); 11y-serum creatinine kinase slightly increased (222 U/L); EMG 11y-myopatic; echocardiogram 18y-normal; electrocardiogram 18y-normal Inheritance Familial, autosomal recessive Age/Examination 18y (18 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 2024-10-01 10:09:25 +02:00 (CEST)

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