114Kabuki Syndrome - Type 2 (KDM6A) (歌舞伎症候群-第2型)
115Kallmann Syndrome (KS) (卡爾曼氏症)
116KCNB1 Syndrome (Genetic Disorder)
117KCNQ2 Syndrome (Genetic Disorder)
118Kennedy Disease (甘迺迪氏症) / Spinal and Bulbar Muscular Atrophy (SBMA) (脊髓延髓性肌肉萎縮症)
119KID Syndrome (heterogenous variant in GJB2) (綜合症魚鱗病)
120KIF1A (Genetic Disorder)
121KIF5C Syndrome (Genetic Disorder)
122Kleefstra Syndrome (KS) (Kleefstra綜合症)
123Klippel-Trénaunay Syndrome (KTS) (静脈畸形骨肥大綜合症)