cortical dysplasia, complex, with other brain malformations 12
MONDO:0957217Mondo
Findings
No curated finding names cortical dysplasia, complex, with other brain malformations 12 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 · Death in childhood
HPO, annotations 2026-09-02
Features
26 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.
- Agenesis of corpus callosumHPOHP:0001274
- 7 of 7 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 7 of 7 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 6 of 6 reported patients
- Dysgenesis of the basal gangliaHPOHP:0025102
- 7 of 7 reported patients
- Feeding difficultiesHPOHP:0011968
- 7 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- HyperreflexiaHPOHP:0001347
- 6 of 6 reported patients
- HypotoniaHPOHP:0001252
- 7 of 7 reported patients
- LissencephalyHPOHP:0001339
- 7 of 7 reported patients
- PachygyriaHPOHP:0001302
- 7 of 7 reported patients
- Wide nasal bridgeHPOHP:0000431
- 7 of 7 reported patients
- Exaggerated cupid's bowHPOHP:0002263
- 6 of 7 reported patients
Show the remaining 14
- SeizureHPOHP:0001250
- 6 of 7 reported patients · Infantile onset
- Limb hypertoniaHPOHP:0002509
- 5 of 6 reported patients
- High palateHPOHP:0000218
- 4 of 5 reported patients
- Prominent metopic ridgeHPOHP:0005487
- 5 of 7 reported patients
- Babinski signHPOHP:0003487
- 2 of 3 reported patients
- CryptorchidismHPOHP:0000028
- 2 of 5 reported patients · Male
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.
- CAMSAP1HGNC:19946
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · G2P · Autosomal recessive · 2025