bilateral frontoparietal polymicrogyria
Findings
No curated finding names bilateral frontoparietal polymicrogyria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus.
Definition from the Mondo Disease Ontology (MONDO:0011738), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
32 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.
- DysmetriaHPOHP:0001310
- 3 of 3 reported patients
- EsotropiaHPOHP:0000565
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Frontal polymicrogyriaHPOHP:0006821
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- 3 of 3 reported patients
- Hypoplasia of the pons
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 · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2010
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025