Phenotype #0000142633

Individual ID 00180179
Associated disease ?
Diagnosis/Initial epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations
Diagnosis/Definite ADLSD
Phenotype details Epilepsy (HP:0001250), generalized myoclonic seizures (HP:0002123), developmental regression (HP:0002376), severe global developmental delay (HP:0011344), epicanthus (HP:0000286).
Inheritance Familial, autosomal recessive
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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