This category includes diseases which exist at birth (congenital) or within four weeks after birth (neonatal).

• Achondroplasia
• Angelman Syndrome
• Ataxia Telangiectasia
• Cockayne Syndrome
• Color Blindness
• Congenital Heart Defect
• Congenital Adrenal Hyperplasia
• Cystic Fibrosis
• Dwarfism
• DiGeorge Syndrome
• Down Syndrome
• Fragile X syndrome
• Marfan syndrome
• Prader-Willi Syndrome
• Rett Syndrome
• Turner Syndrome
• Waardenburg Syndrome
• Werner Syndrome
• Williams Syndrome
• Zellweger Syndrome