Phenotype #0000203172

Individual ID	00265380
Associated disease	arthrogryposis
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	arthrogryposis multiplex
Age/Examination	00y00m00d00h
Diagnosis/Definite	Congenital titinopathy
Age/Diagnosis	-
Age/Onset	00y00m00d00h
Phenotype/Onset	-
Phenotype details	Arthrogryposis – terminated 26/40 Bilateral joint contractures of the upper limbs involving the elbows, wrists and fingers; progression with the appearance of bilateral talipes and involvement of both lower limbs. Overall clinical picture c/w (distal) arthrogryposis with likely primary fetal muscle abnormality
Protein	-
Owner name	Sandra Cooper
Database submission license	No license selected
Created by	Sandra Cooper
Date created	2019-09-24 07:56:14 +02:00 (CEST)
Date last edited	2019-09-27 10:29:46 +02:00 (CEST)

Global Variome shared LOVD