Phenotype #0000034302

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00046791
Associated disease	PEOA
Phenotype details	see paper; ..., progressive external ophtalmoparesis, cerebellar signs
Diagnosis/Initial	multiple RC complex defect
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	45y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-07-24 22:08:05 +02:00 (CEST)
Date last edited	2024-09-23 13:11:02 +02:00 (CEST)

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