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lissencephaly 6
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease microlissencephaly
External Links
- Disease Ontology
- DOID:0112236
- Mondo Disease Ontology
- OMIM
