Phenotype #0000203178

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00265386
Associated disease	arthrogryposis
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	arthrogryposis
Age/Examination	35y (35 years)
Diagnosis/Definite	Congenital titinopathy
Age/Diagnosis	-
Age/Onset	00y00m00d00h
Phenotype/Onset	-
Phenotype details	Presented at birth with multiple joint contractures and reduced muscle bulk. Elongated face.
Protein	-
Owner name	Sandra Cooper
Database submission license	No license selected
Created by	Sandra Cooper
Date created	2019-09-24 09:56:21 +02:00 (CEST)
Date last edited	2019-09-27 10:43:47 +02:00 (CEST)

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