Phenotype #0000247313

Individual ID 00329114
Associated disease APBN
Phenotype details Proximal myopathy (biopsy proven)
Hepatopathy
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Jonathan De Winter
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Jonathan De Winter
Date created 2021-02-04 10:14:32 +01:00 (CET)
Date last edited 2021-02-04 12:48:26 +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.