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Complex Cortical Dysplasia With Other Brain Malformations 3

Disease ID: disease_node_20062

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DbxrefMIM:615411
SubclassofDOID_0090131
Data SourceDOID
SynonymsCDCBM3
Doid Labelcomplex cortical dysplasia with other brain malformations 3
Doid DescriptionA complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal domit inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12.
Disease Node Iddisease_node_20062
Doid IdDOID_0090134
LabelComplex Cortical Dysplasia With Other Brain Malformations 3