SHH and holoprosencephaly: It is also known that SHH mutations are associated with other congenital malformations, e.g., Holoprosencephaly 3 (MIM 142945), Microphthalmia with coloboma 5 (MIM 611638), Single median maxillary central incisor (MIM 147250), and Schizencephaly (MIM 269160), however, as expected, the symptoms detected in these disorders were not present/evaluated in our fetuses due to the preservation of the wild-type SHH-TAD.