Short stature-webbed neck-heart disease syndrome
ORPHA:2865Al-Gazali-Dattani syndrome
ORPHA:139477Alazami syndrome
ORPHA:319671Eye defects-arachnodactyly-cardiopathy syndrome
ORPHA:2725GAPO syndrome
ORPHA:2067Ghosal hematodiaphyseal dysplasia
ORPHA:1802Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
ORPHA:2153Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
ORPHA:2230Monosomy 9p syndrome
ORPHA:261112Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
ORPHA:2773Proteasome-associated autoinflammatory syndrome
ORPHA:324977