Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000309938 Individual ID 00418602 Associated disease CF Inheritance Familial, autosomal recessive Diagnosis/Initial primary ciliary dyskinesia, cystic fibrosis primary immunodeficiency Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset 00y00m01d Phenotype/Onset - Phenotype details failure to thrive, low weight (weight <3rd percentile, height 25th percentile); no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic cough, pleural effusion, hilar lymphadenopathy bronchiectasis; leukocytosis, lymphocytosis; chronic diarrhea (improved after 2y), hepatomegaly; no cardiovascular abnormalities; chronic suppurative otitis media, mediastinal lymphadenopathy 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 2022-10-01 10:49:21 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.