Phenotype #0000059481

Individual ID 00079770
Associated disease -
Phenotype details IGF-I level failed to increase after IGF generation test, no response to GH treatment; IGF-I therapy at 6.5y, height increased from -4.9SDS to -3.8SDS; insulin-like growth factor I deficiency; delayed bone age of 2.5y; Mild midfacial hypoplasia, depressed nasal bridge; Moderate frontal bossing, small hands
Diagnosis/Initial -
Inheritance Isolated (sporadic)
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 2009-07-01 13:22:00 +02:00 (CEST)
Date last edited 2009-07-01 15:53:03 +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.