Disease association ontology term - MONDO:0009624 - microcephaly and chorioretinopathy 1
Term summary
- ID
- MONDO:0009624
- Name
- microcephaly and chorioretinopathy 1
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.
