OBO ID: DOID:0112230
Term Name: lissencephaly 5 Search Ontology:
Synonyms:
  • LIS5
Definition: A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in LAMB1 on chromosome 7q31.1. (2)
References:
Ontology: Human Disease   (DOID:0112230)
OTHER lissencephaly 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LAMB1 Lissencephaly 5 615191
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None