complex cortical dysplasia with other brain malformations 5
Findings
No curated finding names complex cortical dysplasia with other brain malformations 5 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 TUBB2A gene.
Definition from the Mondo Disease Ontology (MONDO:0014337), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
16 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.
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- Severe global developmental delayHPOHP:0011344
- 2 of 2 reported patients
- Absent speechHPOHP:0001344
- 1 of 2 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 2 reported patients
- Enlarged posterior fossaHPOHP:0005445
- 1 of 2 reported patients
- Generalized hypotoniaHPOHP:0001290
- 1 of 2 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
Show the remaining 4
- Reduced cerebral white matter volumeHPOHP:0034295
- 1 of 2 reported patients
- Simplified gyral patternHPOHP:0009879
- 1 of 2 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 2 reported patients
- Cortical dysplasiaHPOHP:0002539
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.
- TUBB2AHGNC:12412
- Definitive · Illumina · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
6 names
Resolves to: complex cortical dysplasia with other brain malformations 5
- Also called
- CDCBM5complex cortical dysplasia with other brain malformations caused by mutation in TUBB2Acomplex cortical dysplasia with other brain malformations type 5cortical dysplasia, Complex, with Other brain malformations type 5TUBB2A complex cortical dysplasia with other brain malformationsTUBB2A-related tubulinopathy