OBO ID: DOID:0112228
Term Name: lissencephaly 9 with complex brainstem malformation Search Ontology:
Synonyms:
  • LIS9
  • posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
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. (2)
References:
Ontology: Human Disease   ( DOID:0112228 )
Relationships
is a type of:
OTHER lissencephaly 9 with complex brainstem malformation PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MACF1 Lissencephaly 9 with complex brainstem malformation 618325
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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