Phenotype #0000142643

Individual ID 00180189
Associated disease ?
Diagnosis/Initial epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations
Diagnosis/Definite D2HGA-2, atypical presentation, compatible phenotype, no 2-OH-glutaric aciduria in organic acids.
Phenotype details (Pharmacoresistant) epilepsy (HP:0001250), generalized tonic- clonic seizures (HP:0025190), specific learning disability (HP:0001328).
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 2018-08-24 19:40:22 +02:00 (CEST)
Date last edited N/A

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