Global Variome shared LOVD

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

Phenotype #0000161539 Individual ID 00213058 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y02m Diagnosis/Initial - Age/Examination 01y03m (1 year, 3 months) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Presentation type: insidious onset followed by acute encephalopathic crisis (HP:0006846); Symptoms: macrocephaly (HP:0000256), dystonia (HP:0001276) (for more details see full text), hypertonia (HP:0001276), convulsions (HP:0001250), developmental delay (HP:0001263) Protein - Biochem High excretor; glutarylcarnitine: elevated Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-01-08 09:43:58 +01:00 (CET) Date last edited 2019-07-31 15:00:59 +02:00 (CEST)

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