Global Variome shared LOVD

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

Phenotype #0000161537 Individual ID 00213056 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 01y03m Phenotype/Onset - Phenotype details Presentation: acute (irritability,HP:0000737, encephalopathy, HP:0006846); Further symptoms: severe movement disability, macrocephaly (HP:0000256); MRI(T2): hyperintensities in basal ganglia (putamen), widened Sylvian fissures Protein - Biochem glutarylcarnitine(blood): increased Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-01-08 09:27:45 +01:00 (CET) Date last edited N/A

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