Phenotype #0000166501

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00218052
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	24y (24 years)
Diagnosis/Definite	-
Age/Diagnosis	15y
Phenotype/Onset	-
Phenotype details	Acute metabolic decompensation at age 02y; Outcome: Nonambulatory, feeds by mouth, nonverbal communication (HP:0001344) (current age see above)
Protein	-
Biochem	GA(urine): strongly elevated; 3-OH-GA(urine): elevated
Enzyme/Activity	-
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2019-01-17 14:02:54 +01:00 (CET)
Date last edited	N/A

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