OBO ID: DOID:0112236
Term Name: lissencephaly 6 Search Ontology:
Synonyms:
  • LIS6
Definition: A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in KATNB1 on chromosome 16q21. (2)
References:
Ontology: Human Disease   (DOID:0112236)
OTHER lissencephaly 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KATNB1 Lissencephaly 6, with microcephaly 616212
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None