Phenotype #0000125289

Individual ID 00102501
Associated disease MDC
Phenotype details muscular weakness with proximal predominance, hip congenital luxation; contractures knees; no seizures; MRI brain white matter changes, no gyral abnormalities; CPK: 1770; no mental retardation; head control, assisted trunk control
Diagnosis/Initial dystrophy, muscular, congenital
Diagnosis/Definite MDC-1A
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset 0d
Phenotype/Onset hypotonia, feeding problems
Protein IHC no LAMA2
Owner name Rosário dos Santos
Database submission license No license selected
Created by Rosário dos Santos
Date created 2011-12-20 00:00:32 +01:00 (CET)
Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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.