116Kabuki Syndrome - Type 2 (KDM6A) (歌舞伎症候群-第2型)
117Kallmann Syndrome (KS) (卡爾曼氏症)
118KCNB1 Syndrome (Genetic Disorder)
119KCNQ2 Syndrome (Genetic Disorder)
120Kennedy Disease (甘迺迪氏症) / Spinal and Bulbar Muscular Atrophy (SBMA) (脊髓延髓性肌肉萎縮症)
121KID Syndrome (heterogenous variant in GJB2) (綜合症魚鱗病)
122KIF1A (Genetic Disorder)
123KIF5C Syndrome (Genetic Disorder)
124Kleefstra Syndrome (KS) (Kleefstra綜合症)
125Klippel-Trénaunay Syndrome (KTS) (静脈畸形骨肥大綜合症)