Phenotype #0000130183

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00165319
Associated disease	MYOP
Phenotype details	The patient presented with severe hypotonia, arthrogryposis, and femoral and humeral fractures, required cardiopulmonary resuscitation, and deceased at 13 days.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johann Böhm
Database submission license	No license selected
Created by	Johann Böhm
Date created	2018-07-09 11:54:21 +02:00 (CEST)
Date last edited	2018-07-09 15:48:12 +02:00 (CEST)

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