Phenotype #0000050906

Individual ID 00064748
Associated disease DD
Phenotype details see paper; ..., global developmental delay (HP:0001263), seizures (HP:0001250), multifocal eeg abnormality (HP:0010841), intellectual disability (HP:0001249), developmental regression (HP:0002376), focal seizures with impairment of awareness (HP:0002384), generalized tonic-clonic seizures (HP:0002069), eeg with generalized epileptiform discharges (HP:0011198), absence seizures (HP:0002121), autism (HP:0000717), infantile spasms (HP:0012469), status epilepticus (HP:0002133), generalized tonic seizures (HP:0010818), hypsarrhythmia by eeg (HP:0002521), behavioural abnormality (HP:0000708)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 19y (19 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2016-05-10 21:46:44 +02:00 (CEST)
Date last edited N/A

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