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Metadata
ID	DOID:0112231
Name	lissencephaly 7 with cerebellar hypoplasia
Definition	A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1. https://pubmed.ncbi.nlm.nih.gov/25560765/
Xrefs	MIM:616342
Synonyms	LIS7 [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a lissencephaly