Phenotype #0000000831

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00001677
Associated disease	KTZS
Phenotype details	normal development until seizure onset, psychomotor regression after age 22 months, severe intellectual disability; admin;; amelogenesis imperfecta, hypoplastic rough teeth, yellow teeth
Diagnosis/Initial	-
Inheritance	Familial
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Age/Examination	-
Protein	-
Owner name	Division of Human Genetics, Innsbruck
Database submission license
Created by	Division of Human Genetics, Innsbruck
Date created	2012-10-23 13:23:43 +02:00 (CEST)
Date last edited	2020-11-27 17:43:21 +01:00 (CET)

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