Global Variome shared LOVD

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Phenotype #0000349822 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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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