Search Ontology:
Human Disease

lissencephaly 1

Term ID
DOID:0112237
Synonyms
  • LIS1
  • PAFAH1B1-related lissencephaly
Definition
A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3. (2)
References
Ontology
Human Disease   ( DOID:0112237 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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