Phenotype #0000238254

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00313955
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	WITKOS
Inheritance	Isolated (sporadic)
Phenotype details	see paper; ..., intellectual disability (TIQ <70); OFC percentile P10; height percentile P5; no autism spectrum disorder; no epilepsy; hypermobile joints; no hearing loss; typical facial dysmorphic features; thin hair
Age/Examination	4y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-09 15:12:14 +02:00 (CEST)
Date last edited	N/A

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