FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term lissencephaly 9 with complex brainstem malformation ID (Ontology) DOID:0112228 (Human Disease)
Definition 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 the MACF1 gene on chromosome 1p34.3.
Also Known As "LIS9" ; "posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome"
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 Genes
 lissencephaly 9 with complex brainstem malformation       1
 for disease ribbon | lissencephaly 9 with complex brainstem malformation       1
 model of | lissencephaly 9 with complex brainstem malformation       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_________
congenital nervous system abnormality  |
 |__lissencephaly______________________|
                                       lissencephaly 9 with complex brainstem malformation  1 rec.
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autosomal dominant disease
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Synonyms
  • "LIS9" EXACT OMO:0003012
    "posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome" EXACT
Secondary IDs
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MIM:618325
ORDO:572013