Disease association ontology term - MONDO:0011488 - microcephaly 3, primary, autosomal recessive
Term summary
- ID
- MONDO:0011488
- Name
- microcephaly 3, primary, autosomal recessive
- Ontology or CV name
- Disease association
- Definition
- Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene.