Metadata | |
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ID | DOID:0061142 |
Name | complex cortical dysplasia with other brain malformations 11 |
Definition | A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32. https://pubmed.ncbi.nlm.nih.gov/36228617/ |
Xrefs | |
Synonyms |
CDCBM11 [EXACT] |
Parent Relationships |
is_a complex cortical dysplasia with other brain malformations |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |