Search Ontology:
Human Disease
microcephaly and chorioretinopathy 1
- Term ID
- DOID:0080105
- Synonyms
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- Definition
- A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. https://www.ncbi.nlm.nih.gov/pubmed/25344692
- References
- Ontology
- Human Disease ( DOID:0080105 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models