Phenotype #0000296712

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00404123
Associated disease	AOA
Diagnosis/Initial	-
Diagnosis/Definite	AOA2
Phenotype details	32-y male with progressive ataxia, ocular apraxia, peripheral neuropathy and bilateral Babinski sign
Inheritance	Familial, autosomal recessive
Age/Examination	27y (27 years)
Age/Diagnosis	-
Age/Onset	16y
Phenotype/Onset	-
Protein	-
Owner name	Sherifa Ahmed Hamed
Database submission license
Created by	Sherifa Ahmed Hamed
Date created	2022-02-27 21:38:53 +01:00 (CET)
Date last edited	2022-03-03 11:42:10 +01:00 (CET)

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