Global Variome shared LOVD

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Phenotype #0000309935 Individual ID 00418599 Associated disease CF Inheritance Familial, autosomal recessive Diagnosis/Initial cystic fibrosis, Niemann-Pick disease Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset 8m Phenotype/Onset - Phenotype details failure to thrive; no dysmorphism; normal motor development; speech delay; global developmental delay, hypotonia; recurrent lower respiratory tract infections; interstitial lung disease; slightly low percentage of CD4+ T-cells; hepatomegaly; right sided heart failure, right ventricular and right atrial dilatation, tricuspid regurgitation, severe pulmonary hypertension 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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