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)

Global Variome shared LOVD