Phenotype #0000144028

Individual ID 00183288
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination 01y (1 year)
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details Died (at unkown age); Symptoms: Severe developm. delay (HP:0011344), 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:4,7µM; total carnitine:8,8µM; glutarylcarnitine(blood): not done
Enzyme/Activity -
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2018-10-22 16:00:15 +02:00 (CEST)
Date last edited 2018-11-22 10:47:21 +01:00 (CET)

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