Lissencephaly 9 with Complex Brainstem Malformation (LIS9)

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OMIM 58 618325 MeSH 45 D054082

MedGen 43 CN258209

UniProtKB/Swiss-Prot : ⁷⁶ Lissencephaly 9 with complex brainstem malformation: 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. LIS9 is an autosomal dominant form clinically characterized by global developmental delay apparent since infancy, impaired intellectual development with poor or absent speech, and sometimes abnormal or involuntary movements. Brain imaging shows malformation of the brainstem, in addition to pachygyria and lissencephaly.

MalaCards based summary : Lissencephaly 9 with Complex Brainstem Malformation, is also known as lis9. An important gene associated with Lissencephaly 9 with Complex Brainstem Malformation is MACF1 (Microtubule Actin Crosslinking Factor 1). Affiliated tissues include brain, cortex and pons.

OMIM : ⁵⁸ Lissencephaly-9 is an autosomal dominant neurologic disorder characterized by global developmental delay apparent since infancy, impaired intellectual development with poor or absent speech, and sometimes abnormal or involuntary movements associated with abnormal brain imaging that typically shows pachygyria, lissencephaly, and malformation of the brainstem consistent with a neuronal migration defect (summary by Dobyns et al., 2018). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (618325)

Clinical features from OMIM:

618325

Search Clinical Trials , NIH Clinical Center for Lissencephaly 9 with Complex Brainstem Malformation

Search GEO for disease gene expression data for Lissencephaly 9 with Complex Brainstem Malformation.