Global Variome shared LOVD

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

Phenotype #0000000367 Individual ID 00000935 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y04m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset Acute encephalopathic crisis with hypotonia (HP:0008947), dystonia (HP:0001276) and quadriparesis (HP:0002273) Phenotype details Disease course: quadriplegic dystonia, anarthria (HP:0002425); CT: fronto-temporal atrophy, loss of caudate nuclei Protein - Biochem GA(urine): elevated; marked serum carnitine deficiency Enzyme/Activity Residual activity: 0% (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 11:00:54 +01:00 (CET)

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