The following recommendations are currently being worked on and will be published as soon as possible:

• Long QT syndrome
• Childhood nephrotic syndrome
• Tay Sachs disease
• Denys Drash syndrome
• CLOVES syndrome
• Cleidocranial dysplasia
• Choanal atrasia
• Börjeson-Forssman-Lehmann syndrome
• Bloom syndrome
• Fibromuscular dysplasia
• Gorlin-Goltz syndrome
• Osteopathia striata
• Diastrophal dysplasia
• Yellow nail syndrome
• Cystic hygroma
• Retinoblasma
• Very long chain acetyl co-enzyme dehydrogenase deficiency
• Hypophosphatasia
• Turner syndrome
• Schuur-Hoiejmakers syndrome (PACS 1)
• Congenital Insensitivity to Pain and Anhidrosis (CIPA)
• Hardikar syndrome
• Pseudocholinesterase