Phenotype #0000337565

Individual ID 00448375
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details see paper; ..., neurodevelopmental delay; seizures; dysphagia; nystagmus; MRI brain severe generalized brain atrophy, aplasia 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 4y6m (4 years, 6 months)
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 InternationalCreative Commons License
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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