Phenotype #0000041379

Individual ID 00054700
Associated disease MDC
Phenotype details infantile hypotonia, arthrogryposis, congenital femur fracture and hip dislocation, gross motor delay, walked age 2 years, mild facial weakness, contractures, distal laxity, hyperkeratosis pilaris, restrictive lung disease ; CPK mild elevation (378); IHC COLVI; histology dystrophic
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.