Global Variome shared LOVD

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Phenotype #0000086934 Individual ID 00109545 Associated disease CTLN1 Phenotype details see paper; ..., recurrent generalized tonic clonic seizures, significant hyperammonemia (1,112 μg/dl) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 01y04m (1 year, 4 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-07-29 13:58:42 +02:00 (CEST) Date last edited N/A

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