Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
ORPHA:2153Al-Gazali-Dattani syndrome
ORPHA:139477Donnai-Barrow syndrome
ORPHA:2143Dysraphism-cleft lip/palate-limb reduction defects syndrome
ORPHA:2476Eye defects-arachnodactyly-cardiopathy syndrome
ORPHA:2725Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
ORPHA:2773Postaxial acrofacial dysostosis
ORPHA:246Short stature-webbed neck-heart disease syndrome
ORPHA:2865Thakker-Donnai syndrome
ORPHA:1780