Global Variome shared LOVD

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Phenotype #0000309931 Individual ID 00418595 Associated disease CF Inheritance Familial, autosomal recessive Diagnosis/Initial primary immunodeficiency, cystic fibrosis, primary ciliary dyskinesia, aspiration syndrome and mitochondrial cytopathy Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset 7d Phenotype/Onset - Phenotype details failure to thrive, weight below 5th percentile; no dysmorphism; delayed motor development with right hemiplegia; normal mental development; hemiparesis, paucity in the movement right side body; recurrent lower respiratory tract infections; chronic coughing, recurrent wheezing episodes, dyspnea, bilateral crackles, bronchial wall thickening, mediastinal and hilar lymphadenopathy; no immunological abnormalities; no gastroenteric abnormalities; no cardiovascular abnormalities Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-10-01 10:38:21 +02:00 (CEST) Date last edited N/A

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