corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Term ID

DOID:0060816

Synonyms

• corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
• Graham-Cox syndrome
• mental retardation, X-linked, syndromic 28
• MRXS28

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. https://www.ncbi.nlm.nih.gov/pubmed/14556245

References

• ICD10CM:Q87.8
• MIM:300472
• ORDO:52055

Ontology

Human Disease   ( DOID:0060816 )