Phenotype #0000358568

Individual ID 00473773
Associated disease CMS
Phenotype details Hypotonia, neonatal & infancy; Generalized muscle weakness; Developmental retardation, walking; Mental retardation, mild; Retrognathia; Ptosis, bilateral; Nasal speech; Laryngomalacia; Scoliosis; Thymic hyperplasia; Episode of respiratory distress; Oculo-bulbar signs; Acetylcholin-receptor: negative range; MuSK<0.4; Lactate/pyrovate ratio:22.6; EMG-NCV: compatible with NMJ
Diagnosis/Initial congenital myasthenic syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 9y (9 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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