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bilateral frontoparietal polymicrogyria
Summary
- 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.
- Super Class
- autosomal recessive disease polymicrogyria
External Links
- Disease Ontology
- DOID:0080922
- Mondo Disease Ontology
- NCI Thesaurus
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002463 | Language impairment |
| HP:0000252 | Microcephaly |
| HP:0002539 | Cortical dysplasia |
| HP:0001270 | Motor delay |
| HP:0010819 | Atonic seizure |
| HP:0000565 | Esotropia |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0011147 | Typical absence seizure |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0007256 | Abnormal pyramidal sign |
