Phenotype #0000302371

Individual ID 00410266
Associated disease MDDGA3;MEB;WWS
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination 15m
Diagnosis/Definite dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A4
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details creatine kinase units/l (normal values in the range of 24-240): 2697; biopsy: not done
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-23 11:57:25 +02:00 (CEST)
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.