Phenotype #0000173002

Individual ID 00229796
Associated disease EIEE
Phenotype details 1.5y-walks; speaks rare two-word combination; comprehension good; no regression; severe DD or ID; 5.5m-onset seizures (febrile), >6y-no febrile seizures; no MRI anomalies; no hypotonia; no hypertonia; no movement disorder; no stereotypies; autistic, biting, head banging; long philtrum
Diagnosis/Initial early infantil epileptic encephalopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite EIEE-64
Age/Examination 11y6m (11 years, 6 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Intellectual_dis -
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 2019-04-10 22:37:14 +02:00 (CEST)
Date last edited N/A

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