Global Variome shared LOVD

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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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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)

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