kleeblattschädel deformity syndrome

kleeblattschädel deformity syndrome

Meckel syndrome

(1) Meckel syndrome type 1 (OMIM:249000)—due to a defect in MKS1.
(2) Meckel syndrome type 2 (OMIM:603194)—due to a defect in TMEM216.
(3) Meckel syndrome type 3 (OMIM:607361)—due to a defect in TMEM67.
(4) Meckel syndrome type 5 (OMIM:61134)—due to a defect in MKS4.
(5) Meckel syndrome type 5 (OMIM:611561)—due to a defect in RPGRIP1L.
(6) Meckel syndrome type 6 (OMIM:612284)—due to a defect in CC2D2A.