Uner Tan Syndrome
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.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0100153
tubulinopathy
is_a
MONDO:0100545
hereditary neurological disease
is_a
recessive quadrupedalism
exact
SPBC16A3.15c