Lissencephaly 9 with Complex Brainstem Malformation (LIS9)

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OMIM 56 618325 OMIM Phenotypic Series 56 PS607432 MeSH 43 D054082

Orphanet 58 ORPHA572013 MedGen 41 C5193029 CN258209 SNOMED-CT via HPO 68 102542000 128602000 128613002 15253005 16026008 204043002 22066006 221360009 224958001 23024003 237836003 246545002 263681008 271611007 288939007 313307000 397790002 40739000 84757009 91175000 more

UniProtKB/Swiss-Prot : ⁷³ 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, pons and cortex, and related phenotypes are microcephaly and short stature

OMIM : ⁵⁶ 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.