complex cortical dysplasia with other brain malformations 3
Findings
No curated finding names complex cortical dysplasia with other brain malformations 3 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 KIF2A gene.
Definition from the Mondo Disease Ontology (MONDO:0014170), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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
- 2 of 2 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- PachygyriaHPOHP:0001302
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- Thin corpus callosumHPOHP:0033725
- 2 of 2 reported patients
- AgyriaHPOHP:0031882
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.
- KIF2AHGNC:6318
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2015
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
5 names
Resolves to: complex cortical dysplasia with other brain malformations 3
- Also called
- CDCBM3complex cortical dysplasia with other brain malformations caused by mutation in KIF2Acomplex cortical dysplasia with other brain malformations type 3cortical dysplasia, Complex, with Other brain malformations type 3KIF2A complex cortical dysplasia with other brain malformations