Global Variome shared LOVD

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Phenotype #0000358590 Individual ID 00473795 Associated disease CMS Phenotype details Delayed head-up & walking; Difficulty climbing steps and rising from seated position; Limb muscles weakness and atrophy; Wheelchair-bound; Pectus carinatum; Long face; Thin & atrophic muscles; VSD; Scoliosis; Limited range of motion in shoulder; Sleep apnea, intermittent; Ptosis, intermittent; Osteoporosis; Breast adenoma. EMG: compatible with neuromuscular junction disorder; Muscle biopsy: atrophic & hypertrophic changes. Diagnosis/Initial congenital myasthenic syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 36y (36 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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