Phenotype #0000291960

Individual ID 00398872
Associated disease obesity
Phenotype details see paper; ..., 1d-ACTH deficiency; <2y-hyperphagia, obesity; puberty alterations somatotropic, gonadotropic, thyroid axes necessitating hormonal replacement; no obvious pigmentary features (hair color, skin reflectance; chemical analysis hair pigment increased pheomelanin/eumelanin
Diagnosis/Initial ACTH deficiency
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 00y00m01d
Phenotype/Onset ACTH deficiency
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 2022-01-13 21:03:49 +01:00 (CET)
Date last edited N/A

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.