Phenotype #0000345588

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00457081
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	00y07m
Phenotype/Onset	-
Phenotype details	Clinical findings: unable to raise head and turn over at 03m, following a severe fever;
Protein	-
Biochem	[before/after treatment] C5DC (blood) 1.49 / 1.09 µmol/l, C5DC/C8 (blood ) 23.23 / 23.43, Glutaric acid (urine) 1,000 / 612.94 mmol/mol creatinine
Enzyme/Activity	-
Owner name	Sabrina Oeser
Database submission license
Created by	Sabrina Oeser
Date created	2024-10-30 17:05:34 +01:00 (CET)
Date last edited	N/A

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