Global Variome shared LOVD

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

Phenotype #0000155458 Individual ID 00207669 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y07m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Severely affected (dystonia (HP:0001276) and inability to walk (HP:0002540)); Insidious onset; Symptoms: Macrocephaly (HP:0000256), developm. delay (HP:0001263); MRI: Bilateral basal ganglia hypodensities Protein - Biochem GA(urine):2052mmol/mol creatinine; 3-OH-GA: 128mmol/mol creatinine; glutarylcarnitine(blood):5.5 µM Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-27 14:44:11 +01:00 (CET) Date last edited N/A

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