Metadata | |
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ID | DOID:0090133 |
Name | complex cortical dysplasia with other brain malformations 2 |
Definition | A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23. https://www.ncbi.nlm.nih.gov/books/NBK350554/, https://www.ncbi.nlm.nih.gov/pubmed/29048727, https://www.omim.org/entry/615282 |
Xrefs | |
Synonyms |
CDCBM2 [EXACT] |
Parent Relationships |
is_a complex cortical dysplasia with other brain malformations |