Disease association ontology term - MONDO:0851095 - KINSSHIP syndrome
Term summary
- ID
- MONDO:0851095
- Name
- KINSSHIP syndrome
- Ontology or CV name
- Disease association
- Definition
- A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has material basis in heterozygous mutation in AFF3 on chromosome 2q11.2.
