| Metadata | |
|---|---|
| ID | DOID:0081266 |
| Name | pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures |
| Definition | A cortical dysplasia with other brain malformation that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26. https://pubmed.ncbi.nlm.nih.gov/31630790/, https://pubmed.ncbi.nlm.nih.gov/36078134/ |
| Xrefs | |
| Synonyms |
CDCBM15 [EXACT] complex cortical dysplasia with other brain malformations 15 [EXACT] PAMDDFS [EXACT] |
| Parent Relationships |
is_a complex cortical dysplasia with other brain malformations |