Phenotype #0000173790

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00231398
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	Acute onset: Acute encephalopathy (HP:0006846)
Phenotype details	Severely affected (= dystonia (static or progressive), unable to stand up, walk or speak)
Protein	-
Biochem	GA(urine): 2 mmol/mol creatinine; 3-OH-GA(urine): 185 mmol/mol creatinine
Enzyme/Activity	5% (fibroblasts)
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2019-05-01 14:35:47 +02:00 (CEST)
Date last edited	N/A

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