Phenotype #0000219690

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00204331
Associated disease	BRWS
Diagnosis/Initial	Baraitser-Winter syndrome
Diagnosis/Definite	BRWS2
Phenotype details	no short stature, no microcephaly postnatal; seizures; trigonocephaly, hypertelorism, congenital ptosis; pachygyria only anterior greater than posterior lissencephaly
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2020-02-08 14:52:13 +01:00 (CET)
Date last edited	N/A

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