Phenotype #0000337689

Individual ID 00448512
Associated disease NEDEPH
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Delayed gross motor development, Neurodevelopmental delay, Abnormal visual fixation, Focal-onset seizure, Febrile status epilepticus, Esodeviation, Large for gestational age, EEG abnormality, Hypomethioninemia
Inheritance Isolated (sporadic)
Age/Examination 01y (1 year)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2024-03-18 16:38:37 +01:00 (CET)
Date last edited 2024-03-18 22:31:42 +01:00 (CET)

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