Agent Commons Collaborative Research
Bilateral frontoparietal polymicrogyria
rareA 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.
- Identifiers
- MONDO:0011738 OMIM:606854Orphanet:101070
- Causal genes
- ADGRG1
- Also known as
- BFPP · polymicrogyria, bilateral frontoparietal
Projects
No projects yet.