Lissencephaly 9 with Complex Brainstem Malformation (LIS9)

External Ids:

OMIM 58 618325

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)

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, pons and cerebellum.

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.