Global Variome shared LOVD

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

Phenotype #0000041521 Individual ID 00054858 Associated disease MTCHRS Phenotype details in vitro fertilization donated egg; born 39w, small; prenatal ultrasoun suspected duodenal atresia; 2d-laparoscopy revealing malrotation,duodenal web necessitating lysis of bands, during hospitalization developed hyperglycemia, received insulin briefly; 1.5m-readmitted hyperbilirubinemia, failure to thrive, hyperglycemia requiring insulin, low C-peptide levels; liver biopsy consistent with cholestatic disease, normal intra/extra-hepatic ducts; 9y-alive, insulin dependent (small dose) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-11-28 12:05:54 +01:00 (CET) Date last edited N/A

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