OMIM®:
57
Lissencephaly-8 (LIS8) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (Jerber et al., 2016).
For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (607432). (617255) (Updated 08-Dec-2022)
MalaCards based summary:
Lissencephaly 8, also known as lis8, is related to epilepsy, idiopathic generalized 14 and schuurs-hoeijmakers syndrome. An important gene associated with Lissencephaly 8 is TMTC3 (Transmembrane O-Mannosyltransferase Targeting Cadherins 3), and among its related pathways/superpathways are Vesicle-mediated transport and Rab regulation of trafficking. Affiliated tissues include cerebellum, cortex and brain, and related phenotypes are intellectual disability and seizure
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. LIS8 patients manifest delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, hypotonia, cortical gyral abnormalities, and hypoplasia of the corpus callosum, brainstem and cerebellum. LIS8 inheritance is autosomal recessive.
Disease Ontology:
11
A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has material basis in homozygous or compound heterozygous mutation in TMTC3 on chromosome 12q21.32.
