Term Name: complex cortical dysplasia with other brain malformations 13
Synonyms: CDCBM13
Definition: A complex cortical dysplasia with other brain malformations characterized by global developmental delay with impaired intellectual development that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
Ontology: Human Disease [DOID:0061144]   ( DOID:0061144 )

Relationships
is a type of: autosomal dominant disease complex cortical dysplasia with other brain malformations