OBO ID: DOID:0060816 |
Term Name: | corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0060816 ) |
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ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS: None
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