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lissencephaly 6 with microcephaly

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene.
Uniprot Description A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS6 features include hypoplasia of the corpus callosum, severe microcephaly and developmental delay.
Mondo Term and Equivalent IDs
MONDO:0014534:  lissencephaly 6 with microcephaly