Phenotype #0000125370

Individual ID 00103664
Associated disease MDC
Phenotype details hyperintensity of cerebral white matter on MRI (HP:0030890), joint contracture (HP:0001371)
Diagnosis/Initial dystrophy, muscular, congenital
Diagnosis/Definite MDC-1A
Inheritance Familial, autosomal recessive
Age/Examination 00y18m (18 months)
Age/Diagnosis -
Age/Onset 00y00m00d
Phenotype/Onset -
Protein -
Owner name Jorge Oliveira
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Jorge Oliveira
Date created 2017-04-15 21:48:58 +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.