OBO ID: DOID:0112231
Term Name: lissencephaly 7 with cerebellar hypoplasia Search Ontology:
Synonyms:
  • LIS7
Definition: A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1. https://pubmed.ncbi.nlm.nih.gov/25560765/
References:
Ontology: Human Disease   ( DOID:0112231 )
Relationships
is a type of:
OTHER lissencephaly 7 with cerebellar hypoplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CDK5 ?Lissencephaly 7 with cerebellar hypoplasia 616342
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.