OBO ID: DOID:0080922
Term Name: bilateral frontoparietal polymicrogyria Search Ontology:
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:
Ontology: Human Disease   (DOID:0080922)
OTHER bilateral frontoparietal polymicrogyria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ADGRG1 Polymicrogyria, bilateral frontoparietal 606854
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None