Phenotype #0000289363

Individual ID 00396197
Associated disease LGMD
Phenotype details 9y-wheelchair bound; 19y-cardiopathy; 18y-non-invasive ventilation
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMD2F
Age/Examination 29y (29 years)
Age/Diagnosis -
Age/Onset 2y
Phenotype/Onset -
Protein IHQ/IF no sarcoglycan complex, no SGCD
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 2021-12-15 10:01:23 +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.