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lissencephaly 7 with cerebellar hypoplasia

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS7 patients manifest lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy.
Mondo Term and Equivalent IDs
MONDO:0014596:  lissencephaly 7 with cerebellar hypoplasia
UMLS:C4225359: