Phenotype #0000105525

Individual ID 00132755
Associated disease NICCD
Phenotype details severe anemia, hypergalactosaemia, citrullinaemia, hypermethioneamia; 4y-healthy with no treatment
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 04y (4 years)
Age/Diagnosis -
Age/Onset 00y00m40d
Phenotype/Onset liver disease
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 2017-11-04 14:02:48 +01:00 (CET)
Date last edited 2017-11-04 14:05:39 +01:00 (CET)

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.