Global Variome shared LOVD

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Phenotype #0000247036 Individual ID 00328829 Associated disease ? Diagnosis/Initial severe infantile onset leukoencephalopathy Diagnosis/Definite NEMMLAS Phenotype details see paper; ..., 24y-deceased; neonatal onset; ataxia; dystonia; action tremor; hypotonia; seizures; intellectual disability; growth retardation; exotropia, amblyopia, horizontal nystagmus, diffuse weakness, spastic quadriplegia Inheritance Familial, autosomal recessive Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-02-01 10:22:57 +01:00 (CET) Date last edited 2023-11-15 13:09:04 +01:00 (CET)

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