microcephaly and chorioretinopathy 1 Disease Ontology Browser

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Disease Ontology Browser

microcephaly and chorioretinopathy 1 (DOID:0080105)
Alliance: disease page
Alt IDs: OMIM:251270
Definition: A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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