Disease association ontology term - MONDO:0007918 - microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Term summary
- ID
- MONDO:0007918
- Name
- microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- Ontology or CV name
- Disease association
- Definition
- A microcephaly caused by a mutation in KIF11 gene and follows autosomal dominant inheritance. It is characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
