Phenotype #0000162008

Individual ID	00213554
Associated disease	CMYO4A;CFTD
Phenotype details	severe; LE initially weaker than UE; 2.3y-marked pectus excavatum; 9.5y-facial weakness, significant dysarthria, scoliosis, severe weakness of upper and lower limbs; 2.5y-ventilator dependent, G-tube; never walked; wheelchair bound allways; no intellectual disability
Diagnosis/Initial	fiber-type disproportion, congenital
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CFTD
Age/Examination	-
Age/Diagnosis	-
Age/Onset	3m
Phenotype/Onset	hypotonia, head lag, motor delay
Protein	-
Owner name	Alan Beggs
Database submission license
Created by	Johan den Dunnen
Date created	2009-06-17 17:17:12 +02:00 (CEST)
Date last edited	2012-03-18 12:26:26 +01:00 (CET)

Global Variome shared LOVD