Global Variome shared LOVD

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

Phenotype #0000166551 Individual ID 00218105 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y05m06d Diagnosis/Initial - Age/Examination 01y06m15d (1 year, 6 months, 15 days) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details APGAR: 1min:3, 5min:7; Starting at age 05m06d: encephalopathy (HP:0006846) with fever (HP:0001945), seizures (HP:0001250), athetoid limb movements (HP:0002305), onset of dystonia (HP:0001276); Disease course: mild developmental delay (at01y03m: unable to sit but head control and visual interaction possible), failure to thrive (HP:0001508), several emergency visits and hospitalizations because of infectious diseases, encephalopathy and seizures; Present neurological status (age01y06m15d): severe dystonia (HP:0001276); Autopsy: laryngitis and dehydration; MRI(age 09m): frontotemporal atrophy, widened Sylvian fissures (for more information see full text) Protein - Biochem GA(urine): 99-118 µmol/mmol creatinine Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-01-22 18:00:57 +01:00 (CET) Date last edited 2019-07-12 10:55:00 +02:00 (CEST)

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