Phenotype #0000296710

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00404121
Associated disease	SACS
Phenotype details	18-y male with progressive ataxia, peripheral neuropathy, Babinski sign, pes cavus and mental retardation. He had delayed physical and mental development.
Diagnosis/Initial	SCA
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SACs
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	08y
Phenotype/Onset	-
Protein	-
Owner name	Sherifa Ahmed Hamed
Database submission license
Created by	Sherifa Ahmed Hamed
Date created	2022-02-27 20:58:53 +01:00 (CET)
Date last edited	2022-03-03 10:20:08 +01:00 (CET)

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