Lissencephaly 9 with Complex Brainstem Malformation (LIS9)

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OMIM®: ⁵⁷ Lissencephaly-9 with complex brainstem malformation (LIS9) 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) (Updated 08-Dec-2022)

MalaCards based summary: Lissencephaly 9 with Complex Brainstem Malformation, also known as lis9, is related to motility-related diarrhea. An important gene associated with Lissencephaly 9 with Complex Brainstem Malformation is MACF1 (Microtubule Actin Crosslinking Factor 1). Affiliated tissues include pons, cortex and brain, and related phenotypes are involuntary movements and microcephaly

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. 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.

Disease Ontology: ¹¹ A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has material basis in heterozygous mutation in MACF1 on chromosome 1p34.3.

Clinical features from OMIM®:

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