Global Variome shared LOVD

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Phenotype #0000232107 Individual ID 00306261 Associated disease leukoencephalopathy Diagnosis/Initial leukoencephalopathy Diagnosis/Definite LCC Phenotype details 15y-deceased; identified as a neonate to have intracranial calcification. Presented age 5 months with focal epileptic seizures; progressive dystonia, ataxia, spasticity, severe mental retardation Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset 5m Phenotype/Onset identified as a neonate to have intracranial calcification. Presented age 5 months with focal epileptic seizures Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-13 19:04:44 +02:00 (CEST) Date last edited N/A

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