Phenotype #0000296711

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00404122
Associated disease	SCA
Phenotype details	20-y male with progressive ataxia, abnormal ocular eye movement, cognitive impairment distal lower limb weakness and peripheral neuropathy.
Diagnosis/Initial	SCA
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AOA2
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	13y
Phenotype/Onset	-
Protein	-
Owner name	Sherifa Ahmed Hamed
Database submission license
Created by	Sherifa Ahmed Hamed
Date created	2022-02-27 21:25:02 +01:00 (CET)
Date last edited	2022-03-03 10:37:19 +01:00 (CET)

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