Phenotype #0000155249

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00207471
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	14y11m (14 years, 11 months)
Diagnosis/Definite	-
Age/Diagnosis	00y00m08d
Phenotype/Onset	-
Phenotype details	No movement disorder
Protein	-
Biochem	Low excretor
Enzyme/Activity	Residual activity: 4% control (fibroblasts)
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2018-11-23 11:05:11 +01:00 (CET)
Date last edited	2019-02-12 12:24:12 +01:00 (CET)

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