Phenotype #0000238262

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00313963
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	WITKOS
Inheritance	Familial, autosomal dominant
Phenotype details	see paper; ..., intellectual disability (TIQ <70); OFC percentile P3 (index); height percentile <P0.6; no epilepsy; clinidactyly; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms
Age/Examination	4y9m (4 years, 9 months)
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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