Phenotype #0000015188

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00016560
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	slight phenotype; clinical onset: insidious
Protein	-
Biochem	3-OH-GA(urine): 415 mmol/mol creatinine (c:2-10 mmol/mol creatine), GA(urine): 2989 mmol/mol creatinine (c:2-14 mmol/mol creatinine)
Enzyme/Activity	GCDH activity (fibroblasts): <0.5 % of controls
Owner name	Svenja Wagner
Database submission license	No license selected
Created by	Svenja Wagner
Date created	2014-05-06 11:14:15 +02:00 (CEST)
Date last edited	N/A

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