Global Variome shared LOVD

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Phenotype #0000167659 Individual ID 00219106 Associated disease CILD Phenotype details history of recurrent lower respiratory tract infections, chronic wet cough, persistent segmental collapse left lower lobe with likely bronchiectasis on CT thorax and documented hearing deficit. He also has GSD III. Analysis of nasal brushings showed that all cilia were static or dyskinetic. TEM revealed a transposition defect with absence of the central pair. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Jillian Casey Database submission license No license selected Created by Jillian Casey Date created 2014-02-14 16:55:40 +01:00 (CET) Date last edited 2014-06-20 21:54:47 +02:00 (CEST)

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