Visualize Submit Comment

Metadata
ID	DOID:0112230
Name	lissencephaly 5
Definition	A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1. https://pubmed.ncbi.nlm.nih.gov/25925986/, https://pubmed.ncbi.nlm.nih.gov/23472759/
Xrefs	MIM:615191
Synonyms	LIS5 [EXACT]
Parent Relationships	is_a lissencephaly is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance