Lissencephaly 8 (LIS8)

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OMIM 57 617255 MedGen 42 C4310646 CN239574

MeSH 44 D054082 SNOMED-CT via HPO 69 258211005 271611007 128306009 193570009 247053007 76976005 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 221360009 397790002 224958001 204036008 249808002 397932003 204043002 42376006 4945003 more

OMIM : ⁵⁷ Lissencephaly-8 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 (summary by Jerber et al., 2016). For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (607432). (617255)

MalaCards based summary : Lissencephaly 8, is also known as lis8. An important gene associated with Lissencephaly 8 is TMTC3 (Transmembrane And Tetratricopeptide Repeat Containing 3). Affiliated tissues include cerebellum, brain and cortex, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : ⁷⁵ Lissencephaly 8: 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.

Clinical features from OMIM:

617255

Search Clinical Trials , NIH Clinical Center for Lissencephaly 8

Search GEO for disease gene expression data for Lissencephaly 8.