Phenotype #0000254104

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00358846
Associated disease	JBTS
Phenotype details	mild intellectual disability; mild developmental delay; retina problems; no coloboma; kidney problems; liver symptoms; no encephalocele; no polydactyly
Diagnosis/Initial	Joubert syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Johan den Dunnen
Date created	2021-03-16 16:48:35 +01:00 (CET)
Date last edited	N/A

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