Phenotype #0000330187

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00440290
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	CSS1
Phenotype details	see paper; ..., birth 39w; intellectual disability.developmental delay; no agenesis corpus callosum; autism spectrum disorder; severe speech impairment; no seizures; hypotonia; low hairline; strabismus
Inheritance	Isolated (sporadic)
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-31 19:36:26 +01:00 (CET)
Date last edited	N/A

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