Phenotype #0000000582

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00001150
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	00y10m
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	Severely affected: dystonia, unable to stand up, walk and speak
Protein	-
Biochem	3-OH-GA(urine): 107 mmol/mol creatinine (c: 2-14); GA(urine): 39 mmol/mol creatinine (c: 2-10)
Enzyme/Activity	1-5% of control (fibroblasts)
Owner name	Katrin Hinderhofer
Database submission license
Created by	Julia Lopez
Date created	2013-04-17 17:21:21 +02:00 (CEST)
Date last edited	2019-01-16 11:32:14 +01:00 (CET)

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