Phenotype #0000203176

Individual ID	00265384
Associated disease	arthrogryposis
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	arthrogryposis and hypotonia
Age/Examination	30y (30 years)
Diagnosis/Definite	Congenital titinopathy
Age/Diagnosis	-
Age/Onset	00y00m00d00h
Phenotype/Onset	-
Phenotype details	Delayed motor milestones. General hypotonia; muscle weakness in proximal and distal upper limbs and in distal lower limbs; scapular winging bilaterally; predominant scapuloperoneal distribution of muscle weakness. rocker bottom deformity, valgus deformity of calcaneus; Orthopedic surgery at ankles (cuboid elongation and transposition of m. posterior peroneus longus) at age 12y. Orthopedic surgery at wrists (transposition of flexorcarpiulnaris to flexorcarpiradialis) at age 12y
Protein	-
Owner name	Sandra Cooper
Database submission license	No license selected
Created by	Sandra Cooper
Date created	2019-09-24 09:42:54 +02:00 (CEST)
Date last edited	2019-09-27 10:41:42 +02:00 (CEST)

Global Variome shared LOVD