As the most serious ciliopathies, Meckel‐Gruber syndrome (MKS, OMIM 24,900) has been classified into at least 14 types (MKS1~14), caused by variants in genes such as MKS1, TMEM216, TMEM67, CEP290, RPGRIP1L, CC2D2A, NPHP3, TCTN2, B9D1, B9D2, TMEM231, Kif14, TMEM107, TXNDC15 (Hartill et al. 2017; Parisi 2019). Here, MKS1 is linked to ciliopathy.