SOX2

MedlinePlus Genetics provides information about Septo-optic dysplasia

At least 33 mutations in the SOX2 gene have been found to cause SOX2 anophthalmia syndrome. Some of these mutations prevent the gene from making any SOX2 protein, while others result in the production of an abnormally short, nonfunctional version of the protein. A few mutations change single protein building blocks (amino acids) in the SOX2 protein. All of these mutations disrupt the protein's ability to regulate genes essential for normal development of the eyes and other parts of the body. Abnormal development of these structures causes the signs and symptoms of SOX2 anophthalmia syndrome.

MedlinePlus Genetics provides information about Coloboma

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MedlinePlus Genetics provides information about Microphthalmia