OBO ID: DOID:0112233
Term Name: lissencephaly 8 Search Ontology:
Synonyms:
  • LIS8
Definition: A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in TMTC3 on chromosome 12q21.32. https://pubmed.ncbi.nlm.nih.gov/27773428/
References:
Ontology: Human Disease   (DOID:0112233)
OTHER lissencephaly 8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TMTC3 Lissencephaly 8 617255
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None