Phenotype #0000059488

Individual ID 00079777
Associated disease Laron
Phenotype details Laron syndrome; Pregnancy and delivery without complications; Frontal bossing, midface hypoplasia; Obesity, acromicria; clinical features GH deficiency; first months episodes of hypoglycemia; GHBP activity undetecable, basal GH plasma baseline 42ng/ml, +Arginine, 99ng/ml; IGF1/IGFBP-3 plasma levels low and resistant to 4d rGH administration
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-07-09 11:49:49 +02:00 (CEST)
Date last edited 2009-08-21 17:20:32 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.