Phenotype #0000292326

Individual ID 00231378
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite NEDLIB
Inheritance Isolated (sporadic)
Phenotype details OFC >3rd; developmental delayFocal, tonic-clonic; focal seizures, tonic-clonic seizures; head growth deceleration; no speech; brain MRI normal
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-01-17 14:44:41 +01:00 (CET)
Date last edited N/A

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