Phenotype #0000171207

Individual ID	00226095
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	06y (6 years)
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	Asymptomatic; CT: frontotemporal atrophy;
Protein	-
Biochem	GA(urine) & 3-OH-GA(urine): excessively increased; carnitine(serum): marked deficiency
Enzyme/Activity	-
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2019-02-25 12:05:27 +01:00 (CET)
Date last edited	N/A

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