Phenotype #0000299931

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00407799
Associated disease	FRDA
Phenotype details	ataxia, foot deformity, scoliosis, axonal sensory neuropathy, mild dysarthria, 15y-wheelchairbound, 21y-hypertrophic cardiomyopathy, atrophy cervical spinal cord and upper cerebellar vermis
Diagnosis/Initial	Friedreich's ataxia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	FRDA
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-04-08 19:01:34 +02:00 (CEST)
Date last edited	N/A

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