complex cortical dysplasia with other brain malformations 7
Findings
No curated finding names complex cortical dysplasia with other brain malformations 7 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 TUBB2B gene.
Definition from the Mondo Disease Ontology (MONDO:0012399), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
37 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.
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Hypoplasia of the brainstemHPOHP:0002365
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- 4 of 4 reported patients
- PolymicrogyriaHPOHP:0002126
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 25
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 2 of 5 reported patients
- Partial agenesis of the corpus callosumHPOHP:0001338
- 2 of 5 reported patients
- Abnormal brainstem morphologyHPOHP:0002363
- Occasional (5% to 29% of cases)
- Abnormal caudate nucleus morphologyHPOHP:0002339
- Occasional (5% to 29% of cases)
- Abnormal corpus callosum morphologyHPOHP:0001273
- Occasional (5% to 29% of cases)
- Abnormal temper tantrumsHPOHP:0025160
- Occasional (5% to 29% of cases)
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.
- TUBB2BHGNC:30829
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: complex cortical dysplasia with other brain malformations 7
- Also called
- CDCBM7complex cortical dysplasia with other brain malformations caused by mutation in TUBB2Bcomplex cortical dysplasia with other brain malformations type 7polymicrogyria due to TUBB2B mutationTUBB2B complex cortical dysplasia with other brain malformations