Phenotype #0000159779

Individual ID 00211297
Associated disease CMS
Phenotype details girdle weakness upper/lower, muscle weakness distal/axial, no atrophy, no contractures, scoliosis; walk-13m; CPK normal
Diagnosis/Initial myasthenic syndrome, congenital
Inheritance Unknown
Diagnosis/Definite CMS-10
Age/Examination -
Age/Diagnosis -
Age/Onset 0d
Phenotype/Onset stridor, neonatal respiratory distress
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 2011-11-28 23:06:23 +01:00 (CET)
Date last edited 2013-02-01 19:44:11 +01:00 (CET)

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