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Metadata
ID DOID:0090134
Name complex cortical dysplasia with other brain malformations 3
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 2A (KIF2A) gene on chromosome 5q12.
https://www.ncbi.nlm.nih.gov/pubmed/29077851, https://www.omim.org/entry/615411, https://www.ncbi.nlm.nih.gov/books/NBK350554/
Xrefs

MIM:615411

Synonyms

CDCBM3 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a complex cortical dysplasia with other brain malformations

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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