Uner Tan Syndrome

MONDO:0100144

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.

Also known as: recessive quadrupedalism

0 clinical trials for this condition and its sub-types, 0 tagged with Uner Tan Syndrome itself.

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↑ Hereditary neurological disease (5772) ↑ Autosomal recessive disease (994) ↑ Tubulinopathy (0)

Including sub-types (0) Tagged with Uner Tan Syndrome (0)

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