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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
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y653 | Adhesion G-protein coupled receptor G1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0001249 | Intellectual disability |
| HP:0002141 | Gait imbalance |
| HP:0000486 | Strabismus |
| HP:0002119 | Ventriculomegaly |
| HP:0002463 | Language impairment |
| HP:0001263 | Global developmental delay |
| HP:0000252 | Microcephaly |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0002365 | Hypoplasia of the brainstem |
