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| Term | pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | ID (Ontology) | DOID:0081266 (Human Disease) | |||||||||||||||||||
| 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. | |||||||||||||||||||||
| Also Known As | "CDCBM15" ; "complex cortical dysplasia with other brain malformations 15" ; "PAMDDFS" | |||||||||||||||||||||
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brain disease |__complex cortical dysplasia with other brain malformations |__pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 5 rec. |
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| Is a | complex cortical dysplasia with other brain malformations | ||
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| MIM:618737 | |||