Global Variome shared LOVD

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

Phenotype #0000333402 Individual ID 00444148 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 28y (28 years) Diagnosis/Definite - Age/Diagnosis 28y Phenotype/Onset - Phenotype details Initial diagnosis: baby of patient was conspicious in NBS with decreased C0 level (genetic testing not performed) Phenotype: uneventful medical history; intermittent headaches, dizziness; no macrocephaly; neurological examination normal; kidney function normal; Imaging: brain MRI: bilateral opercular atrophy, subcortical and perivenral white matter invovement and symmetrical Protein - Biochem C0 3.20 µmol/l, C5DC 0.43 µmol/l; elevated excretion of urianry glutaric and 3-hydroxyglutaric acid Enzyme/Activity not reported Owner name Sabrina Oeser Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Sabrina Oeser Date created 2023-12-19 10:59:48 +01:00 (CET) Date last edited 2023-12-19 11:53:08 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.