Global Variome shared LOVD

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

Phenotype #0000161534 Individual ID 00213052 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y05m Phenotype/Onset - Phenotype details Presentation: acute (irritability, HP:0000737, encephalopathy, HP:0006846); Symptoms: mild movement disability, macrocephaly (HP:0000256); 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 16:16:26 +01:00 (CET) Date last edited N/A

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