Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000357930 Individual ID 00473135 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details onset 21y with weight loss & digestive manifestations including malnutrition, malabsorption, vomiting, and chronic abdominal pain, suspicious of Crohn disease; Facial weakness; Ophthalmoplegia; Progressive proximal & distal muscle weakness & wasting; Pes cavus; Feet drop; Areflexia; Impaired walking, Imbalance; EMG-NCV: chronic demyelinating sensorimotor polyneuropathy. Inheritance Familial, autosomal recessive Age/Examination 31y (31 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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