TUBB-related tubulinopathy
MONDO:1061000
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.
Disease research snapshot
No clinical trials have been linked to this exact normalized concept in the current published dataset. This is a coverage limitation, not evidence that the condition or medicine has never been studied. Try a synonym or browse registry-reported labels.
Numbers are derived from CureCurrent's current ClinicalTrials.gov projection and conservative MONDO/RxNorm mappings. See sources, counting rules and limitations and verify eligibility or clinical findings with the original study record.
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Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.