119Kabuki Syndrome - Type 2 (KDM6A) (歌舞伎症候群-第2型)
120Kallmann Syndrome (KS) (卡爾曼氏症)
121KCNB1 Syndrome (Genetic Disorder)
122KCNQ2 Syndrome (Genetic Disorder)
123Kennedy Disease (甘迺迪氏症) / Spinal and Bulbar Muscular Atrophy (SBMA) (脊髓延髓性肌肉萎縮症)
124KID Syndrome (heterogenous variant in GJB2) (綜合症魚鱗病)
125KIF1A (Genetic Disorder)
126KIF5C Syndrome (Genetic Disorder)
127Kleefstra Syndrome (KS) (Kleefstra綜合症)
128Klippel-Trénaunay Syndrome (KTS) (静脈畸形骨肥大綜合症)