Disease association ontology term - MONDO:0100144 - Uner Tan Syndrome
Term summary
- ID
- MONDO:0100144
- Name
- Uner Tan Syndrome
- Ontology or CV name
- Disease association
- Definition
- A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations.
