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Complex Cortical Dysplasia With Other Brain Malformations 2

Disease ID: disease_node_20063

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DbxrefMIM:615282
SubclassofDOID_0090131
Data SourceDOID
SynonymsCDCBM2
Doid Labelcomplex cortical dysplasia with other brain malformations 2
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 5C (KIF5C) gene on chromosome 2q23.
Disease Node Iddisease_node_20063
Doid IdDOID_0090133
LabelComplex Cortical Dysplasia With Other Brain Malformations 2