bilateral polymicrogyria
Findings
No curated finding names bilateral polymicrogyria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.
Definition from the Mondo Disease Ontology (MONDO:0017091), read 2026-09-29. CC BY 4.0.
Features
44 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.
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the brainstemHPOHP:0007362
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the cerebral white matterHPOHP:0012429
- Frequent (30% to 79% of cases)
- Cerebellar ataxia associated with quadrupedal gaitHPOHP:0009878
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- Frequent (30% to 79% of cases)
Show the remaining 32
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Language impairmentHPOHP:0002463
- Frequent (30% to 79% of cases)
- Mental deteriorationHPOHP:0001268
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
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.
- ADGRG1HGNC:4512
- Definitive · Natera · Autosomal recessive · 2023
Where it sits
- A kind of