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Metadata
ID	DOID:0061141
Name	complex cortical dysplasia with other brain malformations 12
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. https://pubmed.ncbi.nlm.nih.gov/36283405/
Xrefs	MIM:620316
Synonyms	CDCBM12 [EXACT]
Parent Relationships	is_a complex cortical dysplasia with other brain malformations is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance