Phenotype #0000041373

Individual ID 00054694
Associated disease MDC
Phenotype details infantile hypotonia, congenital femur fracture, walked age 2 years, progression with wheelchair dependency by 12y, distal laxity, hyperkeratosis pilaris, restrictive lung disease; CPK mild elevation (282); histology dystrophic
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal dominant
Age/Examination 23y (23 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein IHC COLVI;
Owner name Shireen Lamandé
Database submission license No license selected
Created by Shireen Lamandé
Date created 2015-11-08 12:06:11 +01:00 (CET)
Date last edited 2019-10-11 13:21:26 +02:00 (CEST)

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