Global Variome shared LOVD

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Phenotype #0000000370 Individual ID 00000938 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 01y06m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset Acute encephalopathic crisis (HP:0006846) with convulsions (HP:0001250) and coma Phenotype details Disease course: At age 04y: hypotonia (HP:0001252), muscle weakness (HP:0003690), speech delay (HP:0000750); CT: frontotemporal atrophy Protein - Biochem GA(urine) & 3-OH-GA(urine): excessively increased Enzyme/Activity Residual activity: undetectable (fibroblasts) Owner name Katrin Hinderhofer Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2013-04-17 17:21:21 +02:00 (CEST) Date last edited 2019-02-25 11:53:40 +01:00 (CET)

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