Phenotype #0000059453

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00079742
Associated disease	-
Phenotype details	insulin-like growth factor I deficiency, Laron syndrome; typical features of GH deficiency at the age of 6. After 5 days of GH treatment there was no increase in the plasma IGF-1 level. At the age of 8.10y showed no serum GH binding protein activity
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2008-09-19 15:40:07 +02:00 (CEST)
Date last edited	N/A

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