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Metadata
ID DOID:0061144
Name complex cortical dysplasia with other brain malformations 13
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.
https://pubmed.ncbi.nlm.nih.gov/23603762/
Xrefs

MIM:614563

Synonyms

CDCBM13 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a complex cortical dysplasia with other brain malformations

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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