MLS - Musladin-Lueke Syndrome/Beagle

Development abnormality

Description: 
Hereditary disorder affecting the development and structure of connective tissue
Symptomes: 
Growth trouble, stiff skin, slanted eyes, pains and walking up on toes due to tendon contracture
Age d'aparition: 
From birth
Fréquence: 
Not available
Gène impliqué: 
ADAMTSL2
Mutation testée: 
c.660C>T
Transmission: 
Autosomal Recessive
Brevet: 
_
Remarques: 
_