Term Name: | pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures |
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Synonyms: | CDCBM15, complex cortical dysplasia with other brain malformations 15, PAMDDFS |
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. |
Ontology: | Human Disease [DOID:0081266] ( DOID:0081266 ) |