Phenotype #0000347647

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00459743
Associated disease	AT
Phenotype details	see paper; ..., 18y-lost ambulation; movement disorders; ocular motor abnormalities; neuropathy; no pyramidal syndrome; telangiectasia; elevated AFP level; karyotype abnormalities; no immunoglobulin deficiency; MRI cerebellar atrophy
Diagnosis/Initial	ataxia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AT
Age/Examination	28y (28 years)
Age/Diagnosis	27y
Age/Onset	10y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-11 14:57:49 +01:00 (CET)
Date last edited	N/A

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