Global Variome shared LOVD

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Phenotype #0000059504 Individual ID 00079793 Associated disease Laron Phenotype details Laron syndrome; At the age of 27 months the patient's basal GH level was 160. Her IGFBP-3 activity was 58% of normal and GHBP activity was 30% of normal. rnThey had previously found that she does not carry the splice mutation that is prevalent in Ecuador. 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 2009-07-16 10:42:04 +02:00 (CEST) Date last edited 2009-07-16 10:42:59 +02:00 (CEST)

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