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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:
Echinobase Genes : tubgcp6
MIM:251270 - microcephaly and chorioretinopathy with or without mental retardation, autosomal recessive |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a)