Phenotype #0000300934

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00408815
Associated disease	JBTS
Phenotype details	phenotype similar to proband III:1; psychomotor delay, poor language skills; walked at 2y
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Joubert syndrome
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-28 13:58:18 +02:00 (CEST)
Date last edited	N/A

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