Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000161565 Individual ID 00213085 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 01y06m Phenotype/Onset - Phenotype details At age 01y06m: developmental delay (HP:0001263) (no further symptoms) Protein - Biochem GA(urine) &3-OH-GA(urine): elevated; glutarylcarnitine(NBS):5.5µmol/L; free carnitine(follow-up): 4.3µmol/L Enzyme/Activity undetectable (lymphocytes) Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-01-09 12:11:07 +01:00 (CET) Date last edited N/A

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