Global Variome shared LOVD

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

Phenotype #0000015952 Individual ID 00017593 Associated disease DPDD Phenotype details 8y-severe growth retardation (length <3rd centile), submitted to hospital for treatment of upper airway infection, hypokalaemia (2.5mmol/L), thymine-uraciluria, no convulsions or other neurological abnormalities Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Enzyme/Activity undetectable (fibroblasts) Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2014-06-19 22:28:21 +02:00 (CEST) Date last edited N/A

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