LIS6
MCID: LSS039
MIFTS: 23
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Lissencephaly 6 with Microcephaly (LIS6)
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Lissencephaly 6 with Microcephaly:
Name: Lissencephaly 6 with Microcephaly
56
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy variable neuroradiologic findings HPO:31
lissencephaly 6 with microcephaly:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications: |
OMIM :
56
Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014).
For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (616212)
MalaCards based summary : Lissencephaly 6 with Microcephaly, is also known as lissencephaly 6, with microcephaly. An important gene associated with Lissencephaly 6 with Microcephaly is KATNB1 (Katanin Regulatory Subunit B1). Affiliated tissues include brain and cortex, and related phenotypes are spasticity and hyperreflexia UniProtKB/Swiss-Prot : 73 Lissencephaly 6, with microcephaly: 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. |
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Human phenotypes related to Lissencephaly 6 with Microcephaly:31 (show all 17)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616212 |
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MalaCards organs/tissues related to Lissencephaly 6 with Microcephaly:40
Brain,
Cortex
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Articles related to Lissencephaly 6 with Microcephaly:
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ClinVar genetic disease variations for Lissencephaly 6 with Microcephaly:6
UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly 6 with Microcephaly:73
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Search
GEO
for disease gene expression data for Lissencephaly 6 with Microcephaly.
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