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Metadata
ID	DOID:0081266
Name	pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Definition	A lissencephaly 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	MIM:618737
Synonyms	PAMDDFS [EXACT]
Parent Relationships	is_a lissencephaly