Global Variome shared LOVD

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

Phenotype #0000166550 Individual ID 00218104 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y06m24d Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Starting at age 06m24d: choreoathetosis (HP:0001266); several emergency visits and hospitalizations because of infectious diseases and choreoathetosis; head circumference: 50-75th percentile; Present neurological status: moderate choreoathetosis, moderate dystonia (HP:0001276); MRI(age 03m): frontotemporal atrophy, widened Sylvian fissures, decreased white matter attenuation, dilation of lateral ventricles (for more information see full text) Protein - Biochem GA(urine): 142µmol/mmol creatinine Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-01-22 17:56:05 +01:00 (CET) Date last edited 2019-07-12 10:56:14 +02:00 (CEST)

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