Larsen syndrome

Disease Term Disease ID Gene Symbol Classification References Source
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS C3278404 B3GAT3 Causal Pathogenic evidence from ClinVar 21763480, 24668659, 25893793, 26086840, 27604308, 31438591 ClinVar
CHST3 Causal Pathogenic evidence from ClinVar - ClinVar
B4GALT7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Larsen syndrome, recessive type C2931649 CHST3 Causal Pathogenic evidence from ClinVar 20830804 ClinVar
Larsen syndrome 503, C0175778 FLNB Causal Pathogenic evidence from ClinVar 14991055, 16801345 ClinVar
GZF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28475863 -
Larsen syndrome, dominant type C2931648 FLNB Causal Pathogenic evidence from ClinVar 14991055 ClinVar