Phenotype #0000111246

Individual ID 00138498
Associated disease MDC
Phenotype details severe progressive muscle weakness; floppy as newborn, delayed motor milestones; loss ability to walk (HP:0006957) 4y
Diagnosis/Initial dystrophy, muscular, congenital (CMD)
Diagnosis/Definite -
Inheritance Unknown
Age/Examination -
Age/Diagnosis -
Age/Onset 00y00m00d
Phenotype/Onset floppy
Protein IHC DMD at sarcolemma, no UTRN
Owner name Svetlana Gorokhova
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2012-04-20 17:26:20 +02:00 (CEST)
Date last edited 2021-06-29 15:35:36 +02:00 (CEST)

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