109Kabuki Syndrome - Type 2 (KDM6A) (歌舞伎症候群-第2型)
110Kallmann Syndrome (KS) (卡爾曼氏症)
111KCNB1 Syndrome (Genetic Disorder)
112KCNQ2 Syndrome (Genetic Disorder)
113Kennedy Disease (甘迺迪氏症) / Spinal and Bulbar Muscular Atrophy (SBMA) (脊髓延髓性肌肉萎縮症)
114KID Syndrome (heterogenous variant in GJB2) (綜合症魚鱗病)
115KIF1A (Genetic Disorder)
116KIF5C Syndrome (Genetic Disorder)
117Kleefstra Syndrome (KS) (Kleefstra綜合症)
118Klippel-Trénaunay Syndrome (KTS) (静脈畸形骨肥大綜合症)