Uner Tan Syndrome
MONDO:0100144Mondo
Findings
No curated finding names Uner Tan Syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0100144), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: Uner Tan Syndrome
- Also called
- recessive quadrupedalism