complex cortical dysplasia with other brain malformations 6
Findings
No curated finding names complex cortical dysplasia with other brain malformations 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene.
Definition from the Mondo Disease Ontology (MONDO:0014341), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- Dysgenesis of the basal gangliaHPOHP:0025102
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Primary microcephalyHPOHP:0011451
- 3 of 3 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 2 of 3 reported patients
- Partial agenesis of the corpus callosumHPOHP:0001338
- 2 of 3 reported patients
- AtaxiaHPO
Show the remaining 3
- Retinal dysplasiaHPOHP:0007973
- 1 of 3 reported patients
- Subcortical band heterotopiaHPOHP:0032409
- 1 of 3 reported patients
- Thin corpus callosumHPOHP:0033725
- 1 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TUBBHGNC:20778
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
4 names
Resolves to: complex cortical dysplasia with other brain malformations 6
- Also called
- complex cortical dysplasia with other brain malformations caused by mutation in TUBBcomplex cortical dysplasia with other brain malformations type 6cortical dysplasia, Complex, with Other brain malformations type 6TUBB complex cortical dysplasia with other brain malformations