<unk>  (MKS) is an autosomal recessive lethal malformation. Recently, two MKS genes, MKS1 and MKS3, have been identified. A study done recently has described the cellular, sub-cellular and functional characterization of the novel proteins, MKS1 and<unk> in, encoded by these genes. The malfunction of this protein production is mainly responsible for this lethal disorder. Type OMIM Gene MKS1 MKS1 MKS2 TMEM216 MKS3 TMEM67 MKS4 CEP290 MKS5 RPGRIP1L MKS6 CC2D2A MKS7 NPHP3 MKS8 TCTN2 MKS9 B9D1 MKS10 B9D2 Relation to other rare genetic disorders Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely varying, phenotypically-observed disorders. Thus,<unk>  is a ciliopathy. Other known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, and some forms of retinal degeneration. The MKS1 gene has been identified as being associated with a ciliopathy.
Meckel–Gruber syndrome
Seckel syndrome
Laurence–Moon syndrome
Silver–Russell syndrome
Klüver–Bucy syndrome
Klippel–Feil syndrome
Koolen–De Vries syndrome
Landau–Kleffner syndrome