Lissencephaly 4; Lis4

Description

Lissencephaly-4 is an autosomal recessive neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly (head circumference of more than 10 standard deviations (SD) below the mean), and profound mental retardation. It has also been referred to as 'microlissencephaly' (summary by Bakircioglu et al., 2011 and Alkuraya et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Lissencephaly 4; Lis4

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertonia
  • Dilatation
  • Cerebellar hypoplasia
  • Agenesis of corpus callosum

And another 8 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.

Alternative names

Lissencephaly 4; Lis4 Is also known as lissencephaly 4 with microcephaly.

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 4; Lis4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc (United States).

SHH, STIL, SIX3, TUBA8, SLC25A19, DEAF1, ARFGEF2, RAB3GAP1, CENPJ, NDE1, FKRP, ARX, ASPM, POMGNT1, POMT2, TUBA1A, COL4A1, CPT2, WDR62, DCX , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Polymicrogyria Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

TUBA8, RAB18, CCND2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, RTTN, TUBA1A, TUBB3, KIF1BP, WDR62, GPSM2, TUBB2B, ADGRG1, OCLN
Specificity
7 %
Genes
100 %
NDE1 sequencing.

By Genetic Services Laboratory University of Chicago (United States).

NDE1
Specificity
100 %
Genes
100 %
Cerebral Cortical Malformation Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Lissencephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SNAP29, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, NDE1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB, SRD5A3, POMGNT2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Autosomal Recessive Primary Microcephaly Tier 2 panel.

By Genetic Services Laboratory University of Chicago (United States).

STIL, SLC25A19, ZNF335, ARFGEF2, STAMBP, CENPJ, NDE1, CDK6, CENPE, CENPF, CDK5RAP2, CIT, MED17, KNL1, WDR62, SASS6, CEP63, MFSD2A, CEP135, CEP152 , (...)

View the complete list with 4 more genes
Specificity
5 %
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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