Phenotype #0000125563

Individual ID 00152634
Associated disease MDC
Phenotype details delayed motor milestones; CPK 30x; intellectual disability (IQ 61); sit 9m, stood 2.5y, stairs 8y, never run
Diagnosis/Initial dystrophy, muscular, congenital, 1D (MDC-1D)
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 2m14d
Phenotype/Onset hypotonia, regurgitation
Protein WB no DAG1; IHC DAG1 reduced, LAMA2 mildly reduced, normal DMD/SGCA/SGCG
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 2012-04-22 00:16:26 +02:00 (CEST)
Date last edited N/A

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