Phenotype #0000124813

Individual ID 00152470
Associated disease MDC
Phenotype details less severe, MRI no severe abnormalities; intellectual disability (HP:0001249)
Diagnosis/Initial dystrophy, muscular, congenital
Diagnosis/Definite -
Inheritance Unknown
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein POMT1 activity markedly reduced
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 2008-02-08 10:20:36 +01:00 (CET)
Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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