Phenotype #0000343499

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00454892
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	RENU
Phenotype details	see paper; ..., short stature; microcephaly, aquired; severe global developmental delay; 4-5 years; no speech; intellectual disability; behavioral issues; seizures; MRI brain abnormal, periventricular leuckomalacia
Inheritance	Isolated (sporadic)
Age/Examination	5y10m (5 years, 10 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-30 10:26:47 +02:00 (CEST)
Date last edited	N/A

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