Phenotype #0000222795

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00289164
Associated disease	BMD/DMD
Diagnosis/Initial	BMD/DMD
Diagnosis/Definite	BMD
Phenotype details	no symptoms at diagnosis, quadriceps hypotrophy and calf hypertrophy; ventricle dilation/m2 93,6, EF 0.535; no respiratory involvement; elevated CK3.8x
Inheritance	Familial, X-linked recessive
Age/Examination	36y7m (36 years, 7 months)
Age/Diagnosis	34y3m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-03-01 17:33:28 +01:00 (CET)
Date last edited	N/A

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