Phenotype #0000084481 - Global Variome shared LOVD

Global Variome shared LOVD

TBX19 (T-box 19)

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

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Phenotype #0000084481

Individual ID	00106684
Associated disease	MYOP
Phenotype details	Fraternal twins described by Donkervoort et al 2017 with cytoplasmic body myopathy. Both twins had evidence of facial weakness, generalized hypotonia with marked head lag, and severe weakness with only minimal movements of the fingers and toes. Extraocular movements were normal
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Kristen Nowak
Database submission license	No license selected
Created by	Kristen Nowak
Date created	2017-07-09 05:50:47 +02:00 (CEST)
Date last edited	N/A

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