Phenotype #0000082207

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00104077
Associated disease	JBTS
Phenotype details	Mild Molar tooth sign; Oculomotor apraxia; nystagmus; Dysmorphic facial features; right hand Postaxial polydactyly; global macrosomia; Neurodevelopmental delay; Dysarthria; Gait ataxia
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Enza Maria Valente
Database submission license	No license selected
Created by	Enza Maria Valente
Date created	2017-05-12 12:50:22 +02:00 (CEST)
Date last edited	2017-05-12 15:46:35 +02:00 (CEST)

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