Global Variome shared LOVD

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

Phenotype #0000358577 Individual ID 00473782 Associated disease CMS Phenotype details Developmental delay, motor; Not able to walk; Hypotonia; Congenital glaucoma; Cataract; Ptosis; Scoliosis; Muscle weakness; Ophthalmoplegia; Exercise intolerance; Immunodeficiency; Respiratory difficulty; EMG: neuromuscular junction disorder, congenital myasthenic syndrome should be considered. Diagnosis/Initial congenital myasthenic syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 20y (20 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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