cortical dysplasia, complex, with other brain malformations 9
MONDO:0032578Mondo
Findings
No curated finding names cortical dysplasia, complex, with other brain malformations 9 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
- Infantile onset
HPO, annotations 2026-09-02
Features
31 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.
- Autistic behaviorHPOHP:0000729
- 7 of 7 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 7 of 7 reported patients
- Delayed early-childhood social milestone developmentHPOHP:0012434
- 7 of 7 reported patients
- Delayed fine motor developmentHPOHP:0010862
- 7 of 7 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 7 of 7 reported patients
- EEG abnormalityHPOHP:0002353
- 7 of 7 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 5 of 5 reported patients
- Inability to walkHPOHP:0002540
- 7 of 7 reported patients
- PachygyriaHPOHP:0001302
- 7 of 7 reported patients
- Reduced cerebral white matter volumeHPOHP:0034295
- 6 of 6 reported patients
- SeizureHPOHP:0001250
- 7 of 7 reported patients
- Severe global developmental delayHPOHP:0011344
- 7 of 7 reported patients
Show the remaining 19
- Severe intellectual disabilityHPOHP:0010864
- 6 of 6 reported patients
- Atonic seizureHPOHP:0010819
- 6 of 7 reported patients
- HyperreflexiaHPOHP:0001347
- 6 of 7 reported patients
- HypotoniaHPOHP:0001252
- 6 of 7 reported patients
- AtaxiaHPOHP:0001251
- 2 of 3 reported patients
- Absent speechHPOHP:0001344
- 4 of 7 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.
- CTNNA2HGNC:2510
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
2 names
Resolves to: cortical dysplasia, complex, with other brain malformations 9
- Also called
- CDCBM9CTNNA2-related lissencephaly spectrum disorder