Disease

corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Definition

A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1.

Synonyms

corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
Graham-Cox syndrome

Cross References

Parent Terms

syndromic X-linked intellectual disability

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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