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Metadata
ID DOID:0061138
Name complex cortical dysplasia with other brain malformations 9
Definition A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12.
https://pubmed.ncbi.nlm.nih.gov/30013181/
Xrefs

MIM:618174

Synonyms

CDCBM9 [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

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