Global Variome shared LOVD

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

Phenotype #0000155440 Individual ID 00207651 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 33y Phenotype/Onset - Phenotype details Symptoms: Macrocephaly (HP:0000256) and learning difficulties during childhood, at current age no complaints (profession: mechanic); CT: Two arachnoidal cysts Protein - Biochem GA(urine) & 3-OH-GA(urine): elevated; Free carnitine(plasma):7.7µmol/L; Total carnitine(plasma):10.6µmol/L; glutarylcarnitine(plasma): 1.55µmol/L Enzyme/Activity <1.0nmol/h.mg protein (lymphocytes) Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-27 08:54:38 +01:00 (CET) Date last edited N/A

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