Phenotype #0000343408

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00454797
Associated disease	CILD
Phenotype details	see paper; ..., cilia beat frequency 10.8 Hz, cilia beating pattern stiff, static
Diagnosis/Initial	primary ciliary dyskinesia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CILD5
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-27 14:52:58 +02:00 (CEST)
Date last edited	N/A

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