Phenotype #0000036617

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00049843
Associated disease	BAIDCS
Phenotype details	bicoronal synostosis, partial R lambdoid synostosis, bony defect of metopic and sagittal sutures; MRI mildly enlarged lateral ventricles, shortened corpus callosum, hypoplastic pons, enlarged foramen magnum; strabismus sursoadductorius, moderate-severe learning disability
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-09-12 21:36:41 +02:00 (CEST)
Date last edited	N/A

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