Phenotype #0000171227

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00147129
Associated disease	DD
Phenotype details	developmental delay, intellectual disability, epilepsy, autism spectrum disorder
Diagnosis/Initial	developmental delay
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	MRD-1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Joonhong Park
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2019-02-26 23:11:23 +01:00 (CET)
Date last edited	2019-02-26 23:12:27 +01:00 (CET)

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