113Kabuki Syndrome - Type 2 (KDM6A) (歌舞伎症候群-第2型)
114Kallmann Syndrome (KS) (卡爾曼氏症)
115KCNB1 Syndrome (Genetic Disorder)
116KCNQ2 Syndrome (Genetic Disorder)
117Kennedy Disease (甘迺迪氏症) / Spinal and Bulbar Muscular Atrophy (SBMA) (脊髓延髓性肌肉萎縮症)
118KID Syndrome (heterogenous variant in GJB2) (綜合症魚鱗病)
119KIF1A (Genetic Disorder)
120KIF5C Syndrome (Genetic Disorder)
121Kleefstra Syndrome (KS) (Kleefstra綜合症)
122Klippel-Trénaunay Syndrome (KTS) (静脈畸形骨肥大綜合症)