occipital pachygyria and polymicrogyria
MONDO:0013583Mondo
Findings
No curated finding names occipital pachygyria and 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
- Juvenile onset
HPO, annotations 2026-09-02
Features
7 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 seizureHPOHP:0002069
- 3 of 3 reported patients
- PachygyriaHPOHP:0001302
- 3 of 3 reported patients
- PolymicrogyriaHPOHP:0002126
- 3 of 3 reported patients
- Focal impaired awareness automatism seizureHPOHP:0032909
- 1 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 3 reported patients
- Visual lossHPOHP:0000572
- 1 of 3 reported patients
- EEG abnormalityHPOHP:0002353
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.
- LAMC3HGNC:6494
- Definitive · Illumina · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: occipital pachygyria and polymicrogyria
- Also called
- occipital malformations of cortical developmentoccipital MCD