Phenotype #0000326766

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00436630
Associated disease	CRS
Phenotype details	see paper; ..., hypoplasia or abscent corpus callosum, ventriculomegaly, lambdoid craniosynostosis, macrocephaly, develomental delay, dysmorphic features, no urinary tract defects
Diagnosis/Initial	craniosynostosis
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	BRMUTD
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-09-25 19:27:02 +02:00 (CEST)
Date last edited	N/A

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