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Metadata
ID	DOID:0112237
Name	lissencephaly 1
Definition	A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3. https://pubmed.ncbi.nlm.nih.gov/11754098/, https://pubmed.ncbi.nlm.nih.gov/12668601/
Xrefs	OMIM:607432 ORDO:95232
Subsets	DO_rare_slim
Synonyms	LIS1 [EXACT] PAFAH1B1-related lissencephaly [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a lissencephaly