Global Variome shared LOVD

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Phenotype #0000144024 Individual ID 00183283 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 00y10m (10 months) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Severely affected, Symptoms: Macrocephaly (HP:0000256), dystonia (HP:0001332); Neuroimaging:Brain atrophy, widely open pretemporal and Silvian fissure CSF spaces, extracerebral fluid collections, subependymal cysts, basal ganglia lesions, delayed myelination, white matter signal abnormalities Protein - Biochem GA(urine) & 3-OH-GA(urine):markedly increased on qualitative urine organic acid analysis but not quantified; plasma free carnitine:3,9µM; total carnitine:7,4µM; glutarylcarnitine(blood): 0,35µM Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-10-22 15:43:51 +02:00 (CEST) Date last edited 2018-11-22 10:40:01 +01:00 (CET)

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