Global Variome shared LOVD

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Phenotype #0000359817 Individual ID 00475103 Associated disease MYOP Diagnosis/Initial congenital myopathy Diagnosis/Definite CMYO26 Phenotype details see paper; ..., delayed motor development milestones, 14m-walk; no intellectual disability; 3y-myopathic face, high-arched palate, waddling gait, winged scapula, muscle weakness four limbs (lower extremities/proximal muscle more severely affected), no ophthalmoplegia, no ptosis, decreased tendon reflexes; elevated serum creatine kinase (491 U/L) Inheritance Isolated (sporadic) Age/Examination 14y (14 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 2026-04-01 11:54:48 +02:00 (CEST) Date last edited N/A

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