Global Variome shared LOVD

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

Phenotype #0000309932 Individual ID 00418596 Associated disease CF Inheritance Familial, autosomal recessive Diagnosis/Initial cystic fibrosis Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset 1d Phenotype/Onset - Phenotype details failure to thrive; prominent forehead, upslanting palpebral fissures, thin upper lips; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic coughing, pneumonia, hyperactive airway disease; no immunological abnormalities; acute gastroenteritis , vomiting, severe gastroesophag eal reflux, chronic diarrhea; 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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