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 CDK5 on chromosome 7q36.1. https://pubmed.ncbi.nlm.nih.gov/25560765/
References:
Ontology: Human Disease   (DOID:0112231)
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