Phenotype #0000236379

Individual ID 00311123
Associated disease MDDG
Phenotype details onset congenital, slowly-progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; mild mental retardation; forced vital capacity normal; muscle weakness proximal and distal upper limb and lower limb; no contractures; no scapular winging; no scoliosis; serum creatine kinase 3,307-7,975 U/L; muscle biopsy dystrophic; muscle imaging normal; EMG myopathic
Diagnosis/Initial dystroglycanopathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 17y (17 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein no indications
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 2020-09-18 13:35:42 +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.