Phenotype #0000349823

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Raymond Dalgleish

Individual ID	00462324
Associated disease	CILD
Phenotype details	Joubert syndrome
Diagnosis/Initial	primary ciliary dyskinesia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	JBTS25
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-02-09 17:26:35 +01:00 (CET)
Date last edited	N/A

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