Global Variome shared LOVD

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

Phenotype #0000155742 Individual ID 00207973 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Symptoms: Head circumference at birth: 50th percentile, head circumference at age 01m: >90th percentile; mild hypotonia (HP:0001252); two episodes of acute illness followed by seizure (HP:0001250); At age 10m: Seizure-like movements after vaccination, slightly delayed development; MRI: Bilateral frontotemporal atrophy; pallidal lesions at 1.3y disappearing after 6y Protein - Biochem glutarylcarnitine(dried blood spot): 0.214µM Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-12-05 13:28:07 +01:00 (CET) Date last edited N/A

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