Global Variome shared LOVD

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

Phenotype #0000161525 Individual ID 00213043 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y09m Phenotype/Onset - Phenotype details Presentation: developmental delay (HP:0001263), dystonia (HP:0001276), severe movement disability; Neuroimaging: 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 2019-01-07 15:40:28 +01:00 (CET) Date last edited N/A

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