Lissencephaly 6 with Microcephaly (LIS6)

Lissencephaly 6 with Microcephaly (LIS6)

OMIM number: 616212

Comments closing date: 15/05/2024

Lissencephaly 6 (LIS6) is a condition that occurs
when a baby inherits a mutation in a gene known
as KATNB1 from both parents. LIS6 is very severe and debilitating
with all known cases having a number of complex
brain changes that result in problems with many
brain functions including motor (movement) and
cognitive (thought) processes; alongside seizures
and usually a lack of ability to speak. In some
cases the condition therefore is not compatible
with life.

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