cortical dysplasia, complex, with other brain malformations 10
MONDO:0032866Mondo
Findings
No curated finding names cortical dysplasia, complex, with other brain malformations 10 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
21 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.
- Delayed early-childhood social milestone developmentHPOHP:0012434
- 12 of 12 reported patients
- Delayed fine motor developmentHPOHP:0010862
- 12 of 12 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 12 of 12 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 11 of 11 reported patients
- LissencephalyHPOHP:0001339
- 12 of 12 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 12 of 12 reported patients
- VentriculomegalyHPOHP:0002119
- 12 of 12 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 11 of 12 reported patients
- Generalized-onset seizureHPOHP:0002197
- 7 of 8 reported patients
- Myoclonic seizureHPOHP:0032794
- 7 of 8 reported patients
- HypotoniaHPOHP:0001252
- 10 of 12 reported patients
- Periventricular ribbonlike heterotopiaHPOHP:0032390
- 5 of 9 reported patients
Show the remaining 9
- HypertoniaHPOHP:0001276
- 4 of 12 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 3 of 12 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 2 of 12 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 2 of 12 reported patients
- Hypoplasia of the ponsHPOHP:0012110
- 2 of 12 reported patients
- Infantile spasmsHPOHP:0012469
- 1 of 8 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.
- APC2HGNC:24036
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019