Phenotype #0000092956

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00117486
Associated disease	JBTS14
Phenotype details	molar tooth sign; posterior fossa abnormality; hydrocephalus; cystic kidney; nystagmus; strabismus; optic atrophy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	08y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Lijia Huang
Database submission license	No license selected
Created by	Lijia Huang
Date created	2013-06-24 19:06:33 +02:00 (CEST)
Date last edited	2013-06-24 19:26:50 +02:00 (CEST)

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