Phenotype #0000015952

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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
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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