Phenotype #0000203175

Individual ID 00265383
Associated disease arthrogryposis
Inheritance Familial, autosomal recessive
Diagnosis/Initial arthrogryposis
Age/Examination 22y (22 years)
Diagnosis/Definite Congenital titinopathy
Age/Diagnosis -
Age/Onset 00y00m00d00h
Phenotype/Onset -
Phenotype details Presented at birth with hypotonia and arthrogryposis multiplex congenita. Age 22 yr - Wheelchair user with some support function in left leg.
Face long/asymmetric, Normal facialis/extraorbital muscles, high palate, neckflaxion almost 0. Paraspinal/abdominal 0.
Ul prox 2 (MRC 0-10), Ul wrist 5, fingers 6, LLprox 2, knee 3, LLdist 5.
Contractures elbow, wrist, fingers, knee, ankles (hip surgery).
Protein -
Owner name Sandra Cooper
Database submission license No license selected
Created by Sandra Cooper
Date created 2019-09-24 09:21:25 +02:00 (CEST)
Date last edited 2019-09-27 10:39:50 +02:00 (CEST)

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