Phenotype #0000269730

Individual ID 00374520
Associated disease ?
Diagnosis/Initial epilepsy, autism spectrum disorder
Diagnosis/Definite -
Phenotype details Manifested global developmental delay with autistic features, bruxism, depressed nasal bridge, bulbous nose, self harming at night and excessive cry. MRI was normal and EEG was suggestive of multifocal epilepsy.
Inheritance Familial, autosomal dominant
Age/Examination -
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-05-24 20:06:48 +02:00 (CEST)
Date last edited N/A

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