FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term microcephaly and chorioretinopathy 3 ID (Ontology) DOID:0080107 (Human Disease)
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.
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 microcephaly and chorioretinopathy 3       1
 for disease ribbon | microcephaly and chorioretinopathy 3       1
 model of | microcephaly and chorioretinopathy 3       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 microcephaly and chorioretinopathy 3  1 rec.
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Is a autosomal recessive disease
syndrome
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MIM:616335