Phenotype #0000351342

Individual ID 00465942
Associated disease NDD
Diagnosis/Initial neurodegenerative delay
Diagnosis/Definite DEDISB
Phenotype details see paper; ..., motor delay; speech delay; mild delay; behavioral problems; attention deficit–hyperactivity disorder; mild intellectual disability; no neurological features; hyperopia, high astigmatism; MRI normal; generalized tonic–clonic seizures
Inheritance Isolated (sporadic)
Age/Examination 3m
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2025-06-20 11:45:26 +02:00 (CEST)
Date last edited N/A

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