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
descriptionCHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal.
variant-disease NM_012200.4(B3GAT3):c.175C>T (p.Arg59Ter) AND Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
NM_012200.4(B3GAT3):c.909+263del AND Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
NM_012200.4(B3GAT3):c.108C>T (p.Pro36=) AND Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln) AND Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
NM_012200.4(B3GAT3):c.955G>C (p.Glu319Gln) AND Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
... 5 more