Global Variome shared LOVD

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Phenotype #0000144044 Individual ID 00183293 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 00y00m07d (7 days) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Moderately affected, Symptoms: Macrocephaly at birth (HP:0004488), seizures (HP:0001250), hypotonia (HP:0001252), developm. delay (HP:0001263); 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):243 mmol/mol creatinine; 3-OH-GA(urine):44mmol/mol creatinine; plasma free carnitine:6,6µmol/L; total carnitine:14,6µmol/L; glutarylcarnitine(blood):0,98µmol/ Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-10-22 16:26:42 +02:00 (CEST) Date last edited 2018-11-22 10:49:02 +01:00 (CET)

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