Phenotype #0000358176

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473381
Associated disease	ataxia
Diagnosis/Initial	hereditary ataxia
Diagnosis/Definite	-
Phenotype details	onset threey with ataxia and frequent fallings, lower limb muscle cramps, normal brain MRI, normal report of EDX and affected sibling with clinical diagnosis of ALS
Inheritance	Familial, autosomal recessive
Age/Examination	45y (45 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-06 17:24:40 +01:00 (CET)
Date last edited	N/A

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