101Langerhans Cell Histiocytosis (LCH) (蘭格罕細胞組織球增生症)
102Larsen Syndrome (颚裂-先天性脱位症候群)
103Leigh Syndrome (Leigh氏症候群)
104Leopard Syndrome (豹皮症候群)
105Linear Scleroderma (線性硬皮症)
106Lipid Storage Myopathy (LSM) (脂質儲積性肌病)
107Lissencephaly (平腦症)
108Lymphangioleiomyomatosis (LAM) (淋巴管平滑肌增生症)