Phenotype #0000161691

Individual ID 00213216
Associated disease CMS
Phenotype details 0d-multiple joint contractures; neonate-weak suck/cry, poorly weight gain; 6m and later minor respiratory infections, increased weakness, respiratory distress requiring ventilation, mild eyelid ptosis, mild weakness cervical torso/limb muscles, excercise-induced fatigue
Diagnosis/Initial myasthenic syndrome, congenital
Inheritance Isolated (sporadic)
Diagnosis/Definite CMS-11
Age/Examination -
Age/Diagnosis -
Age/Onset 0d
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 2011-11-05 12:10:30 +01:00 (CET)
Date last edited 2012-03-09 19:59:12 +01:00 (CET)

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