Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060816 )
Relationships
is a type of
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Genes Involved
Zebrafish Models