Phenotype #0000223961

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00296554
Associated disease	neuropathy
Diagnosis/Initial	neuropathy
Diagnosis/Definite	CMT2D;HMN5A
Phenotype details	see paper; ..., 6y-developed non-compaction cardiomyopathy, exercise induced myalgia; white matter changes, increased lactate
Inheritance	Familial, autosomal dominant
Age/Examination	12y (12 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-08 10:07:36 +02:00 (CEST)
Date last edited	2020-04-08 10:19:07 +02:00 (CEST)

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