Bilateral Frontoparietal Polymicrogyria
Disease ID: disease_node_16161
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| Dbxref | GARD:10784, MIM:606854, NCI:C148367 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080918 |
| Data Source | DOID |
| Doid Label | bilateral frontoparietal polymicrogyria |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16161 |
| Doid Id | DOID_0080922 |
| Label | Bilateral Frontoparietal Polymicrogyria |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Polymicrogyria(ID:disease_node_13071) (Disease)