Symbol
| LRLS
|
Location
| 11q12.3
|
Name
|
Larsen like syndrome , B3GAT3 type |
Other name(s)
|
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects |
Corresponding gene
|
B3GAT3
|
Main clinical features
|
short stature and multiple congenital dislocations
congenital heart malformation, including mitrale valve prolapse, bicuspid aortic valve and ventricular septal defect
craniofacial dysmorphic features |
Genetic determination
| autosomal recessive |
Function/system disorder
| cardiovascular |
| osteo-articular |
Type
| disease
|