Search Ontology:
Human Disease
microcephaly and chorioretinopathy 3
- Term ID
- DOID:0080107
- Synonyms
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- 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. https://www.ncbi.nlm.nih.gov/pubmed/25344692
- References
- Ontology
- Human Disease ( DOID:0080107 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models