Term Name:	complex cortical dysplasia with other brain malformations 12
Synonyms:	CDCBM12
Definition:	A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34.
Ontology:	Human Disease [DOID:0061141]   ( DOID:0061141 )