Phenotype #0000328279

Individual ID 00438375
Associated disease epilepsy
Phenotype details HP:0001250 seizures; HP:0002353 eeg abnormality; HP:0001903 anemia; HP:0002090 pneumonia; HP:0002094 dyspnea; HP:0002878 respiratory failure; HP:0002719 recurrent infections; HP:0002721 immunodeficiency; HP:0002014 diarrhea
Diagnosis/Initial epilepsy
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 1y
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 2023-10-20 19:13:42 +02:00 (CEST)
Date last edited N/A

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