Phenotype #0000242998

Individual ID 00324428
Associated disease ?
Diagnosis/Initial PEPCK-C deficiency
Diagnosis/Definite PCKDC
Phenotype details neonatal hypoglycemia (HP:0001998), recurrent hypoglycemia (HP:0001988), hypoglycemic coma (HP:0001325)
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Elisa Rahikkala
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-12-13 10:40:43 +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.