Phenotype #0000349822

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00462323
Associated disease	CILD
Phenotype details	sinopulmonary infections (including chronic otorrhea) from early infancy with ultrastructural defects in the cilia (significant microtubular disorganizations, including distorted dynein arms, absent inner dynein arms)
Diagnosis/Initial	primary ciliary dyskinesia
Inheritance	Unknown
Diagnosis/Definite	-
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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