Term Name: pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
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 )

Relationships
is a type of: complex cortical dysplasia with other brain malformations