Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
ORPHA:100978Behr syndrome
ORPHA:1239Bencze syndrome
ORPHA:1241Blue rubber bleb nevus
ORPHA:1059Congenital contractural arachnodactyly
ORPHA:115Deafness with labyrinthine aplasia, microtia, and microdontia
ORPHA:90024Lacrimoauriculodentodigital syndrome
ORPHA:2363Laron syndrome
ORPHA:633Posterior cortical atrophy
ORPHA:54247X-linked fetal akinesia syndrome
ORPHA:995