cortical dysplasia, complex, with other brain malformations 11
MONDO:0859332Mondo
Findings
No curated finding names cortical dysplasia, complex, with other brain malformations 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
30 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
- 3 of 5 reported patients
- VentriculomegalyHPOHP:0002119
- 2 of 4 reported patients
- PolymicrogyriaHPOHP:0002126
- 2 of 5 reported patients
- SeizureHPOHP:0001250
- 1 of 3 reported patients
- Absence of stomach bubble on fetal sonographyHPOHP:0010963
- 1 of 4 reported patients
- BrachydactylyHPOHP:0001156
- 1 of 4 reported patients
- ColpocephalyHPOHP:0030048
- 1 of 4 reported patients
- Growth delayHPOHP:0001510
- 1 of 4 reported patients
- High palateHPOHP:0000218
- 1 of 4 reported patients
- High, narrow palateHPOHP:0002705
- 1 of 4 reported patients
- HydrocephalusHPOHP:0000238
- 1 of 4 reported patients
Show the remaining 18
- HypotelorismHPOHP:0000601
- 1 of 4 reported patients
- IleusHPOHP:0002595
- 1 of 4 reported patients
- Long philtrumHPOHP:0000343
- 1 of 4 reported patients
- Low-set earsHPOHP:0000369
- 1 of 4 reported patients
- MicrognathiaHPOHP:0000347
- 1 of 4 reported patients
- Narrow foreheadHPOHP:0000341
- 1 of 4 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.
- KIF26AHGNC:20226
- Strong · Ambry Genetics · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Baylor College of Medicine Research Center · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023