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 )
- is a type of
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