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 the KATNB1 gene on chromosome 16q21. (2)
References:
Ontology: Human Disease   ( DOID:0112236 )
Relationships
is a type of:
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
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