Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia

Definition:

This syndrome is a condition with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum. This syndrome is caused by mutations in 5-prime region of IGBP1 gene, a regulatory subunit of the major cellular phosphatase PP2A.

References:

[1]. John M Graham Jr, et al. A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13. Am J Med Genet A. 2003 Nov 15;123A(1):37-44. [Content Brief]

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