Lissencephaly 8; Lis8

Description

Lissencephaly-8 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (summary by Jerber et al., 2016).For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Lissencephaly 8; Lis8

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Cataract
  • Spasticity
  • Optic atrophy
  • Talipes equinovarus
  • Ventriculomegaly

And another 15 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Lissencephaly 8; Lis8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Lissencephaly and related disorders NGS test.

By Connective Tissue Gene Tests (United States).

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, NDE1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Lissencephaly and related disorders Deletion / Duplication test.

By Connective Tissue Gene Tests (United States).

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, NDE1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Lissencephaly and related disorders Comprehensive test.

By Connective Tissue Gene Tests (United States).

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, NDE1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Lissencephaly core Deletion / Duplication test.

By Connective Tissue Gene Tests (United States).

NDE1, CDK5, ARX, TUBA1A, TMTC3, DCX, KATNB1, LAMB1, PAFAH1B1, RELN
Specificity
10 %
Genes
100 %
Lissencephaly core Comprehensive test.

By Connective Tissue Gene Tests (United States).

NDE1, CDK5, ARX, TUBA1A, TMTC3, DCX, KATNB1, LAMB1, PAFAH1B1, RELN
Specificity
10 %
Genes
100 %
Lissencephaly core NGS test.

By Connective Tissue Gene Tests (United States).

NDE1, CDK5, ARX, TUBA1A, TMTC3, DCX, KATNB1, LAMB1, PAFAH1B1, RELN
Specificity
10 %
Genes
100 %
TMTC3.

By Fulgent Genetics Fulgent Genetics (United States).

TMTC3
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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