Global Variome shared LOVD

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

Phenotype #0000173786 Individual ID 00231384 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset Insidious onset (= slowly developing psychomotor delay, hypotonia, dystonic postures, lethargy or macrocephaly) Phenotype details Mildy affected (= dystonia (static or improving), able to walk without help) Protein - Biochem GA(urine): 1028 mmol/mol creatinine; 3-OH-GA(urine): 291 mmol/mol creatinine Enzyme/Activity <0.5% (fibroblasts) Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-04-30 17:18:22 +02:00 (CEST) Date last edited N/A

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