MPS7 - Mucopolysaccharidosis Type VII/Brasilian Terrier

Race liée: 

Severe skeletal deformities

Description: 
Lysosomal strorage disease due to enzyme deficiency
Symptomes: 
Severe skeletal deformities, facial dysmorphia, deformed legs, hyperlaxity, growth retardation, inability to walk, premature death or euthanasia within the first weeks of life
Age d'aparition: 
Before 4 weeks old
Fréquence: 
23% carriers
Gène impliqué: 
GUSB
Mutation testée: 
c.866C>T
Transmission: 
Autosomal Recessive
Brevet: 
-