Global Variome shared LOVD

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Phenotype #0000000373 Individual ID 00000941 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y10m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset Subacute hemiparesis (HP:0001269) Phenotype details Disease course: At age 08y: can walk freely but suffers from muscle hypertonia (HP:0001276) and ataxia (HP:0001251), mental and social social development normal; CT: frontotemporal atrophy Protein - Biochem GA(urine) & 3-OH-GA(urine): excessively increased; carnitine(serum): marked deficiency 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 12:27:23 +01:00 (CET)

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