Phenotype #0000079012

Individual ID 00100794
Associated disease stature, short
Phenotype details see paper; index case postnatal growth retardation (-4.0 height SDS), serum IGF-I concentration low (115 µg/l, -2.21 SDS) and increased minimally to 130 µg/l (-1.82 SDS) on GH therapy; severe short stature could be traced back several generations, ...
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
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 2017-03-10 16:23:10 +01:00 (CET)
Date last edited N/A