Phenotype #0000356244

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00471405
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	IDLDP
Phenotype details	see paper; ..., 5m-seizures; global developmental delay; severe intellectual disability; no behavioral problems; MRI brain moderate cerebellar atrophy; severe hypotonia, feeding difficulties, dystonia
Inheritance	Isolated (sporadic)
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-12-21 13:37:07 +01:00 (CET)
Date last edited	N/A

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