Phenotype #0000326561

Individual ID 00436381
Associated disease ?
Diagnosis/Initial NEDLDS
Diagnosis/Definite -
Phenotype details Focal-onset seizure, Neurodevelopmental delay, Short stature, Delayed puberty, Anxiety, Bilateral tonic-clonic seizure, Intellectual disability, mild, Status epilepticus, EEG abnormality, Delayed speech and language development, Motor delay
Inheritance Unknown
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2023-09-04 10:41:25 +02:00 (CEST)
Date last edited 2023-09-04 11:33:44 +02:00 (CEST)

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