FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ID (Ontology) DOID:0060816 (Human Disease)
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.
Also Known As "corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia" ; "Graham-Cox syndrome" ; "mental retardation, X-linked, syndromic 28" (for all, see Synonyms field below)
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 Genes
 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome       1
 for disease ribbon | corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome       1
 model of | corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease_________
syndromic intellectual disability__|
                                   syndromic X-linked intellectual disability
                                    |__corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome  1 rec.
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Is a syndromic X-linked intellectual disability
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Synonyms
  • "corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia" EXACT
    "Graham-Cox syndrome" EXACT
    "mental retardation, X-linked, syndromic 28" EXACT
    "MRXS28" EXACT OMO:0003012
Secondary IDs
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ICD10CM:Q87.8
MIM:300472
ORDO:52055