Lissencephaly 7 with Cerebellar Hypoplasia (LIS7)

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OMIM®: ⁵⁷ Lissencephaly-7 with cerebellar hypoplasia (LIS7) is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (Magen et al., 2015). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (616342) (Updated 08-Dec-2022)

MalaCards based summary: Lissencephaly 7 with Cerebellar Hypoplasia, also known as lis7, is related to hypomelanosis of ito and lissencephaly 3. An important gene associated with Lissencephaly 7 with Cerebellar Hypoplasia is CDK5 (Cyclin Dependent Kinase 5), and among its related pathways/superpathways are Neuroscience and COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include cortex, skeletal muscle and brain, and related phenotypes are seizure and agenesis of corpus callosum

UniProtKB/Swiss-Prot: ⁷³ 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.

Disease Ontology: ¹¹ 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 CDK5 on chromosome 7q36.1.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Lissencephaly 7 with Cerebellar Hypoplasia