Phenotype #0000219689

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00204330
Associated disease	BRWS
Diagnosis/Initial	Baraitser-Winter syndrome
Diagnosis/Definite	BRWS2
Phenotype details	short stature, microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, no hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band 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 14:48:37 +01:00 (CET)
Date last edited	N/A

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