Phenotype #0000041359

Individual ID 00054680
Associated disease MDC
Phenotype details infantile hypotonia and weakness, arthrogryposis, congenital humeral and clavicle fracture, gross motor delay, walked age 6y, mild facial weakness, distal laxity, contractures, scoliosis, mild learning difficulties; CPK normal; IHC COLVI; histology dystrophic
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Age/Examination 17y (17 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Sandra Cooper
Database submission license No license selected
Created by Sandra Cooper
Date created 2015-11-08 12:06:11 +01:00 (CET)
Date last edited N/A

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