TUBB-related tubulinopathy

Any tubulinopathy in which the cause of the disease is a mutation in the TUBB gene. Heterozygous TUBB variants cause two overlapping developmental disorders, complex cortical dysplasia with other brain malformations (CDCBM) and congenital symmetric circumferential skin creases (CSCSC), also known as circumferential skin creases Kunze type. The clinical findings are diverse and include abnormalities of the cortex, basal ganglia, corpus callosum, brain stem and cerebellum, microcephaly, intellectual disability, facial dysmorphism, excess skin folding and growth retardation.