LIS9
MCID: LSS040
MIFTS: 24
|
Lissencephaly 9 with Complex Brainstem Malformation (LIS9)
Categories:
Genetic diseases, Neuronal diseases, Rare diseases
|
|
MalaCards integrated aliases for Lissencephaly 9 with Complex Brainstem Malformation:
Characteristics:HPO:31
lissencephaly 9 with complex brainstem malformation:
Inheritance autosomal dominant inheritance Onset and clinical course infantile onset Classifications: |
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) |
|
Human phenotypes related to Lissencephaly 9 with Complex Brainstem Malformation:31 (show all 15)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618325 |
|
Genetic tests related to Lissencephaly 9 with Complex Brainstem Malformation:
|
MalaCards organs/tissues related to Lissencephaly 9 with Complex Brainstem Malformation:40
Brain,
Pons,
Cortex,
Cerebellum
|
Articles related to Lissencephaly 9 with Complex Brainstem Malformation:
|
ClinVar genetic disease variations for Lissencephaly 9 with Complex Brainstem Malformation:6
UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly 9 with Complex Brainstem Malformation:73
|
Search
GEO
for disease gene expression data for Lissencephaly 9 with Complex Brainstem Malformation.
|
|
|