OBO ID: DOID:0060816
Term Name: corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Search Ontology:
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:
OTHER corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IGBP1 ?Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia 300472
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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