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 International |
Created by |
Johan den Dunnen |
Date created |
2017-03-10 16:23:10 +01:00 (CET) |
Date last edited |
N/A |
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