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Lissencephaly 9 with Complex Brainstem Malformation (LIS9)

Alias:
Lis9
Posterior-Predominant Lissencephaly-Broad Flat Pons and Medulla-Midline Crossing Defects Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
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 and brain, and related phenotypes are intellectual disability, severe and neurodevelopmental delay
Related ID：
MALACARDS：LSS040
OMIM：618325
MESH：D054082

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Infant
<1/1000000
9
43
3
LSS040

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
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IF
No Data Found!
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