Phenotype #0000125547

Individual ID 00152609
Associated disease MDC
Phenotype details developmental delay, hypotonia, mirror movements upper limbs, maximal motor function 9y (walk 200 yards, jump) since then gradual deterioration mobility; CPK 467-4500; intellectual disability; sit 2.5y, walk 4.5y
Diagnosis/Initial dystrophy, muscular, congenital, 1D (MDC-1D)
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis 17y
Age/Onset 5m
Phenotype/Onset -
Protein WB DAG1 reduced average size
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 2008-01-29 17:24:44 +01:00 (CET)
Date last edited 2017-03-31 14:13:45 +02:00 (CEST)

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