Global Variome shared LOVD

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Phenotype #0000337563 Individual ID 00448373 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., neurodevelopmental delay, regression; seizures; dysphagia; nystagmus; MRI brain severe generalized brain atrophy, hypoplasia corpus callosum, no anterior optic pathway volume reduction, no anterior optic pathway volume reduction; EEG generalized and multifocal epileptic discharges Inheritance Familial, autosomal recessive Age/Examination 8m Age/Diagnosis - Age/Onset <1d 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 2024-03-05 08:49:39 +01:00 (CET) Date last edited N/A

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