bilateral frontoparietal polymicrogyria

Term ID

DOID:0080922

Synonyms

Definition

A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21. https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria/cases/32002

References

• GARD:10784
• MIM:606854
• NCI:C148367

Ontology

Human Disease   ( DOID:0080922 )