Global Variome shared LOVD

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Phenotype #0000167539 Individual ID 00218976 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 01y09m Phenotype/Onset At age 01y03m: loss of consciousness (twice) Phenotype details Disease course: At age 02y08m: PDI = 106; at age 02y10m and 03y: seizures (HP:0001250); CT(age 01y03m): bilateral symmetrical widening of fluid cerebral spaces at frontal poles of temporal lob Protein - Biochem High excretor Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-02-04 15:59:29 +01:00 (CET) Date last edited N/A

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