Global Variome shared LOVD

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

Phenotype #0000155252 Individual ID 00207474 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Symptoms: Progressive macrocephaly (HP:0004481) (at 04m), normal results in several neurpsychologic tests (last at 02y), no dystonia; At latest follow-up (09y): macrocephaly resolved, asymptomatic; MRI: Normal basal ganglia and brain maturation Protein - Biochem NBS:glutarylcarnitine:0.30µM;GA(urine)&3-OH-GA(urine):normal in convent. semiquant. organic acid analyis; At 04m:Quant.GC/MSanalysis:GA(urine):10mmol/mol creatinine,3-OH-GA(urine):28mmol/l creatinine Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-23 13:09:11 +01:00 (CET) Date last edited 2018-12-18 16:28:13 +01:00 (CET)

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