complex cortical dysplasia with other brain malformations 2
Findings
No curated finding names complex cortical dysplasia with other brain malformations 2 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 KIF5C gene.
Definition from the Mondo Disease Ontology (MONDO:0014116), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
19 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 1 of 1 reported patient · Fetal onset
- Clonic seizureHPOHP:0020221
- 1 of 1 reported patient
- Fetal akinesia sequenceHPOHP:0001989
- 3 of 3 reported patients · Fetal onset
- HypertoniaHPOHP:0001276
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- Intrauterine growth retardationHPO
Show the remaining 7
- Self-injurious behaviorHPOHP:0100716
- 1 of 1 reported patient
- Severe intellectual disabilityHPOHP:0010864
- 1 of 1 reported patient
- Short footHPOHP:0001773
- 1 of 1 reported patient
- Small handHPOHP:0200055
- 1 of 1 reported patient
- Spastic tetraplegiaHPOHP:0002510
- 1 of 1 reported patient
- Cortical dysplasiaHPOHP:0002539
- Global developmental delayHPO
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.
- KIF5CHGNC:6325
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2015
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2022
Where it sits
Other names
5 names
Resolves to: complex cortical dysplasia with other brain malformations 2
- Also called
- CDCBM2complex cortical dysplasia with other brain malformations caused by mutation in KIF5Ccomplex cortical dysplasia with other brain malformations type 2cortical dysplasia, Complex, with Other brain malformations type 2KIF5C complex cortical dysplasia with other brain malformations