Phenotype #0000351349

Individual ID	00465949
Associated disease	NDD
Diagnosis/Initial	neurodegenerative delay
Diagnosis/Definite	DEDISB
Phenotype details	see paper; ..., motor delay; speech delay; severe delay; behavioral problems; oppositional defiant disorder, aggressivity, attention deficit–hyperactivity disorder; mild intellectual disability; no neurological features; mild unilateral hearing impairment; MRI type 1 Arnold-Chiari malformation; no dysmorphic features; absence seizures
Inheritance	Unknown
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-06-20 11:45:26 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD