The prognosis for patients diagnosed with<unk>  is very poor. Of 17 children analyzed in one study, 10 died at an average age of 2.5 years. Of those that did survive, three were diagnosed with autism, one with an autism spectrum disorder, and the last had severe delays in language development. One patient with atypical<unk>  was largely normal with the exception of heart arrhythmia. Likewise, the mother of two<unk>  patients also carried the mutation, but lacked any obvious phenotype. In both of these cases, however, the lack of severity of the disorder was due to mosaicism.
Timothy syndrome
Goldenhar syndrome
Joubert syndrome
Wolfram syndrome
Christianson syndrome
Cohen syndrome
Kaufman oculocerebrofacial syndrome
Karak syndrome