Term Name: | microcephaly and chorioretinopathy 3 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080107] ( DOID:0080107 ) |