OBO ID: DOID:0112237
Term Name: lissencephaly 1 Search Ontology:
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 )
OTHER lissencephaly 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PAFAH1B1 Subcortical laminar heterotopia 607432
Lissencephaly 1 607432
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None