GENETIC ENCYCLOPEDIA
ABOUT US    

   

disease: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects

id5377
nameMultiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
variant-disease NM_012200.3(B3GAT3):c.175C>T (p.Arg59Ter) AND Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
NM_001288723.1(B3GAT3):c.910-3delC AND Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
NM_012200.3(B3GAT3):c.108C>T (p.Pro36=) AND Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
NM_080680.2(COL11A2):c.1607G>A (p.Arg536Gln) AND Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
NM_007255.2(B4GALT7):c.808C>T (p.Arg270Cys) AND Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
... 4 more