| Metadata | |
|---|---|
| ID | DOID:0061141 |
| Name | complex cortical dysplasia with other brain malformations 12 |
| Definition | A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34. https://pubmed.ncbi.nlm.nih.gov/36283405/ |
| Xrefs | |
| Synonyms |
CDCBM12 [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 |