Phenotype #0000166823

Individual ID	00218387
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	00y09m (9 months)
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	Asymptomatic; MRI (age ≤ 03m15d): Widening of Sylvian fissure, (for more details on MRI see full text)
Protein	GA(urine) & 3-OH-GA(urine): elevated; glutarylcarnitine: 3.8µM
Biochem	-
Enzyme/Activity	-
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2019-01-25 13:36:29 +01:00 (CET)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.