104Kabuki Syndrome - Type 2 (KDM6A) (歌舞伎症候群-第2型)
105Kallmann Syndrome (KS) (卡爾曼氏症)
106KCNB1 Syndrome (Genetic Disorder)
107KCNQ2 Syndrome (Genetic Disorder)
108Kennedy Disease (甘迺迪氏症) / Spinal and Bulbar Muscular Atrophy (SBMA) (脊髓延髓性肌肉萎縮症)
109KID Syndrome (heterogenous variant in GJB2) (綜合症魚鱗病)
110KIF1A (Genetic Disorder)
111KIF5C Syndrome (Genetic Disorder)
112Kleefstra Syndrome (KS) (Kleefstra綜合症)
113Klippel-Trénaunay Syndrome (KTS) (静脈畸形骨肥大綜合症)