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DOID:0080107 - microcephaly and chorioretinopathy 3
Disease Ontology Definition:A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene.
Synonyms:
Xenbase Genes
:
tubgcp4
| MONDO:0014592 - microcephaly and chorioretinopathy 3 |
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)