Phenotype #0000043168

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00056480
Associated disease	LGMD2
Inheritance	Isolated (sporadic)
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	2y6m
Phenotype/Onset	difficulty climbing staris, microcephaly
Phenotype details	no prenatal findings; mild intellectual delay; epilepsy; cataracts; nystagmus; wandering atrial pacemaker; cardiomyopathy; respiratory insufficiency; brain MRI no structural abnormality; CPK 5,200 max U/l; max motor ability run
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2013-07-23 22:58:32 +02:00 (CEST)
Date last edited	N/A

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