Phenotype #0000125391

Individual ID 00103765
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 04y (4 years)
Age/Diagnosis -
Age/Onset 00y05m
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 2017-04-18 23:09:06 +02:00 (CEST)
Date last edited N/A

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