Phenotype #0000059496

Individual ID	00079785
Associated disease	Laron
Phenotype details	Laron syndrome; 23m-height 7m, Somatomedin C level 0.48U/ml; 2.8y-unstimulated GH level 42.8ng/ml, Clonidine stimulated GH level 93.8ng/ml, Somatomedin level <0.1U/ml; GH binding assay, plasma GHBP levels 1.2% and 6.1%; (1993) GHBP level 143pmol/L; 18m IGF-I therapy slipped capital femoral epiphysis
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	2009-07-14 12:32:59 +02:00 (CEST)
Date last edited	2009-08-21 17:24:58 +02:00 (CEST)

Global Variome shared LOVD