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Summary Literature (0)
DOID:0080105 - microcephaly and chorioretinopathy 1

Disease Ontology 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.

Synonyms:

Xenbase Genes : tubgcp6, tubgcp4, plk4

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009624 - microcephaly and chorioretinopathy 1


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)