complex cortical dysplasia with other brain malformations 1
Information
- Disease name
- complex cortical dysplasia with other brain malformations 1
- Disease ID
- DOID:0090137
- Description
- "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3." [url:https\://www.ncbi.nlm.nih.gov/books/NBK350554/, url:https\://www.ncbi.nlm.nih.gov/pubmed/30016746, url:https\://www.omim.org/entry/614039]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0090131
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q04.3
- Cross Reference ID (Disease Ontology)
- MIM:614039
- Cross Reference ID (Disease Ontology)
- ORDO:300570
- Exact Synonym (Disease Ontology)
- CDCBM1
- Exact Synonym (Disease Ontology)
- cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation