Search Ontology:
Human Disease

lissencephaly 6

Term ID
DOID:0112236
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
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Genes Involved
Zebrafish Models