Global Variome shared LOVD

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Phenotype #0000343387 Individual ID 00454768 Associated disease MYOP Diagnosis/Initial congenital myopathy Diagnosis/Definite CMYO25 Phenotype details 11m-not sitting; slowly progressive; walk up to 10 min; mainly manual wheelchair user, able to stand up with assistance, unable to walk; generalised weakness (proximal and distal, upper and lower limbs), facial weakness, ptosis; absent reflexes; talipes at birth; kyphoscoliosis, 12y-surgery, rigid spine (thoraco-lumbar); generalised muscle wasting; bilateral ptosis, ophthalmoplegia; dysphagia; birth respiratory insufficiency, forced vital capacity 0.5 L (0.19), non-invasive ventilation (BiPAP); cleft palate; migraine; mild myopathic changes (in childhood) Inheritance Familial, autosomal recessive Age/Examination 30y-40y 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 2024-09-26 09:29:23 +02:00 (CEST) Date last edited 2026-03-30 15:28:28 +02:00 (CEST)

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