bilateral parasagittal parieto-occipital polymicrogyria
MONDO:0012986Mondo
Findings
No curated finding names bilateral parasagittal parieto-occipital polymicrogyria 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 · Infantile onset · Juvenile onset · Intermediate young adult onset
HPO, annotations 2026-09-02
Features
34 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.
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- 6 of 6 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 6 of 6 reported patients
- Occasional (5% to 29% of cases)
- PolymicrogyriaHPOHP:0002126
- 3 of 3 reported patients
- VentriculomegalyHPOHP:0002119
- 3 of 3 reported patients
- Visual hallucinationHPOHP:0002367
- 6 of 6 reported patients
- Occasional (5% to 29% of cases)
- Cortical dysplasiaHPOHP:0002539
- Very frequent (80% to 99% of cases)
- Delayed fine motor developmentHPOHP:0010862
- Very frequent (80% to 99% of cases)
- Delayed gross motor developmentHPOHP:0002194
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
Show the remaining 22
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Aggressive behaviorHPOHP:0000718
- 3 of 6 reported patients
- Occasional (5% to 29% of cases)
- Abnormal digit morphologyHPOHP:0011297
- Occasional (5% to 29% of cases)
- Abnormal facial shapeHPOHP:0001999
- Occasional (5% to 29% of cases)
- Abnormal fear-induced behaviorHPOHP:0100852
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.
- FIG4HGNC:16873
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021