polymicrogyria

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Information
Disease name
polymicrogyria
Disease ID
DOID:0080918
Description
"A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri)." [url:https\://pubmed.ncbi.nlm.nih.gov/10489031/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1329/]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
NEDD4L 18 58,044,226 58,401,539 4
ATP1A3 19 41,966,584 41,994,270 4
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT00552045 Completed Epilepsy Phenome/Genome Project November 2007 October 2018
NCT04344626 Withdrawn N/A Use of a Tonometer to Identify Epileptogenic Lesions During Pediatric Epilepsy Surgery July 16, 2018 March 2023
Disase is a (Disease Ontology)
DOID:936
Cross Reference ID (Disease Ontology)
MESH:D065706
Cross Reference ID (Disease Ontology)
NCI:C116936
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0002126
OrphaNumber from OrphaNet (Orphanet)
35981
MeSH unique ID (MeSH (Medical Subject Headings))
D065706