Phenotype #0000115945

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00143194
Associated disease	SCA5
Inheritance	Isolated (sporadic)
Diagnosis/Initial	-
Age/Examination	01y06m (1 year, 6 months)
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	cerebellar atrophy, Cerebellar ataxia, Moderate global developmental delay, EEG abnormality, Dolichocephaly, Convergent strabismus, Infantile muscular hypotonia, Hyporeflexia of lower limbs
Protein	-
Owner name	Enza Maria Valente
Database submission license	No license selected
Created by	Enza Maria Valente
Date created	2017-11-29 17:15:14 +01:00 (CET)
Date last edited	2017-12-01 13:33:22 +01:00 (CET)

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