Global Variome shared LOVD

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

Phenotype #0000155238 Individual ID 00207459 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 01y04m Phenotype/Onset - Phenotype details Severely affected; Symptoms at diagnosis: Macrocephaly (HP:0000256), focal seizures (HP:0040168), developm. delay (HP:0001263); Neuroimaging: Typical (= varying degrees of macrocephaly, fronto-temporal brain atrophy, widened and fluid-filled pre-temporal and Sylvian fissures, extracerebral fluid collections, white matter changes and basal ganglia lesions) Protein - Biochem GA(urine): 17.2 µmol/mmol creatinine; 3-OH-GA(urine): 10.4 µmol/mmol creatinine Enzyme/Activity <10pmol.h⁻¹mg⁻¹ protein (cultured fibroblasts) Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-22 17:21:55 +01:00 (CET) Date last edited N/A

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