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microcephaly and chorioretinopathy 3
Summary
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0080107
- Mondo Disease Ontology
- OMIM
