Coloboma, Ptosis, Hypertelorism, and Global Delay
Search For A Disorder
References
Platzer K, Huning I, Obieglo C, Schwarzmayr T, Gabriel R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ. Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. Am J Med Genet A. 2014 May 5. [Epub ahead of print].
Zahrani F, Aldahmesh MA, Alshammari MJ, Al-Hazzaa SA, Alkuraya FS. Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. Am J Hum Genet. 2013 Mar 7;92(3):387-91. Epub 2013 Feb 28.
Ramer JC, Lin AE, Dobyns WB, Winter R, Aym?(c) S, Pallotta R, Ladda RL. Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. Am J Med Genet. 1995 Jul 3;57(3):403-9. Review.
Baraitser M, Winter RM. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. J Med Genet. 1988 Jan;25(1):41-3.