Phenotype #0000059503

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00079792
Associated disease	Laron
Phenotype details	Laron syndrome; At 13 years the patient's GH level was 18. The IGF-1 level remained unchanged with human GH treatment. GHBP activity was not measured.
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	2009-07-16 10:23:12 +02:00 (CEST)
Date last edited	N/A

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