Phenotype #0000328634

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00438736
Associated disease	DEE
Diagnosis/Initial	global developmental delay
Diagnosis/Definite	DEE92
Phenotype details	see paper; ..., global developmental delay; no seizures; EEG normal; MRI brain normal; severe psychomotor delay, generalized dyskinesia, dystonia, cortical visual impairment
Inheritance	Isolated (sporadic)
Age/Examination	01y06m (1 year, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-23 13:20:20 +02:00 (CEST)
Date last edited	N/A

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