| Metadata | |
|---|---|
| ID | DOID:0061143 |
| Name | complex cortical dysplasia with other brain malformations 10 |
| Definition | A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter that has_material_basis_in homozygous or compound heterozygous mutation in the APC2 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/31585108/ |
| Xrefs | |
| Synonyms |
CDCBM10 [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a complex cortical dysplasia with other brain malformations |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |