Global Variome shared LOVD

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Phenotype #0000141885 Individual ID 00179399 Associated disease EE Phenotype details see paper; ..., severe early infantile encephalopathy, progressive microcephaly, axial hypotonia, appendicular hypertonia, refractory epilepsy Diagnosis/Initial early-onset encephalopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - 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 2018-08-20 21:03:08 +02:00 (CEST) Date last edited N/A

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