- Kenny-Caffey syndrome type 1 [DOID:0080722]
A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42.
- tubulinopathy [DOID:0112227]
A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes.
- torsion dystonia 4 [DOID:0090041]
A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13.