Phenotype #0000124599

Individual ID 00152256
Associated disease MDC
Phenotype details Cerebellar hypoplasia and dysplasia; CPK 15x; able to sit
Diagnosis/Initial dystrophy, muscular, congenital; mental retardation
Diagnosis/Definite MDDGB-1
Inheritance Familial
Age/Examination -
Age/Diagnosis 18y
Age/Onset -
Phenotype/Onset -
Protein POMT activity extremely low; IHC reduced DAG1
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 2006-05-14 23:55:00 +02:00 (CEST)
Date last edited 2012-03-09 19:03:40 +01:00 (CET)

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