Phenotype #0000161755

Individual ID	00213280
Associated disease	CMS
Phenotype details	born with severe arthrogryposis knees/hips, bilateral ptosis, facial paresis, episodes of respiratory failure with apneas occur during febrile illness, no diagnosis made, no treatment; 6m-respiratory distress due (false passage feeding during febrile illness), swallowing disturbances, facial paresis with open mouth, bilateral ptosis; 5y-some masticatory difficulties with fatigability, slight bilateral ptosis, moderate facial paresis with open mouth, symptoms fluctuate and aggrevate during fever episodes, resulting in transitory increase of treatment
Diagnosis/Initial	myasthenic syndrome, congenital
Inheritance	Isolated (sporadic)
Diagnosis/Definite	CMS-11
Age/Examination	-
Age/Diagnosis	-
Age/Onset	0d
Phenotype/Onset	1-8d mechanical ventialtion, arthrogryposis with flexionum of knees, pes varus, facial dysmorphia with retrognathia and plagiocephaly
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2011-11-05 12:10:31 +01:00 (CET)
Date last edited	2012-03-09 19:56:21 +01:00 (CET)

Global Variome shared LOVD