Global Variome shared LOVD

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

Phenotype #0000309936 Individual ID 00418600 Associated disease CF Inheritance Familial, autosomal recessive Diagnosis/Initial cystic fibrosis Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset 10d Phenotype/Onset - Phenotype details failure to thrive; no dysmorphism; mild motor delay; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; recurrent wheezing episodes, patch areas of ground glass appearance and scattered consolidations both lungs; no immunological abnormalities; choking, vomiting and chronic diarrhea, hepatomegaly; 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

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