Phenotype #0000358212

Individual ID 00473417
Associated disease CMS
Phenotype details Neonatal jaundice; NICU admission for respiratory problem; onset 2y, Ptosis & Ophthalmoparesis; Prominent thymus & Rt lung calcified granuloma in chest CT scan; EMG-NCV: compatible with post-synaptic neuromuscular junction, significant decrement in the trapezius and anconeus muscles; Negative anti Musk and anti acetylcholine receptor antibody
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 InternationalCreative Commons License
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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