Global Variome shared LOVD

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

Phenotype #0000309933 Individual ID 00418597 Associated disease CF Inheritance Familial, autosomal recessive Diagnosis/Initial type 1 distal, renal tubular acidosis, congenital enteropathies, chloride losing diarrhea, primary immunodeficiency Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset 2d Phenotype/Onset - Phenotype details failure to thrive, weight, height and ofc below 5th percentile; no dysmorphism; mild motor delay; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; mild respiratory tract infections; no immunological abnormalities; chronic diarrhea, episodic vomiting, lethargy; 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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