Metadata | |
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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 | |
Synonyms |
CDCBM9 [EXACT] |
Parent Relationships |
is_a complex cortical dysplasia with other brain malformations |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |