Metadata | |
---|---|
ID | DOID:0090136 |
Name | complex cortical dysplasia with other brain malformations 6 |
Definition | A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/30936767, https://www.omim.org/entry/615771 |
Xrefs | |
Synonyms |
CDCBM56 [EXACT] |
Parent Relationships |
is_a complex cortical dysplasia with other brain malformations |