Phenotype #0000343287

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00454650
Associated disease	mitochondrial
Diagnosis/Initial	slowly progressive mitochondrial disease
Diagnosis/Definite	-
Phenotype details	see papr; ..., cerebellar ataxia, optic atrophy, hypoacusis, peripheral neuropathy, intellectual disability
Inheritance	Familial, X-linked recessive
Age/Examination	39y (39 years)
Age/Diagnosis	-
Age/Onset	01y
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-23 13:17:09 +02:00 (CEST)
Date last edited	N/A

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