Phenotype #0000346100

Individual ID 00457641
Associated disease ?
Diagnosis/Initial long-chain fatty acid oxidation disorder
Diagnosis/Definite ACADVLD
Phenotype details see paper; ..., no muscular symptoms; normal muscle power during neurological exam
Inheritance Familial, autosomal recessive
Age/Examination 10y (10 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2024-11-15 14:14:44 +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.