Lissencephaly 7 With Cerebellar Hypoplasia; Lis7

Description

Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Lissencephaly 7 With Cerebellar Hypoplasia; Lis7

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape
  • Pain
  • Short neck
  • Myopathy
  • Areflexia
  • Cerebellar hypoplasia

And another 10 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

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Lissencephaly 7 With Cerebellar Hypoplasia; Lis7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel.

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

TUBA8, VLDLR, VRK1, CASK, TSEN34, CDK5, EXOSC3, TUBA1A, TUBB3, RARS2, TSEN54, TSEN2, SEPSECS, TUBB2B, AMPD2, OPHN1, CHMP1A, RELN
Specificity
6 %
Genes
100 %
Comprehensive Lissencephaly Panel.

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

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

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel.

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

TUBA8, VLDLR, VRK1, CASK, TSEN34, CDK5, EXOSC3, TUBA1A, TUBB3, RARS2, TSEN54, TSEN2, SEPSECS, TUBB2B, AMPD2, OPHN1, CHMP1A, RELN
Specificity
6 %
Genes
100 %
Cerebral Cortical Malformations Deletion/Duplication 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 (NGS panel for 12 genes).

By CGC Genetics (Portugal).

YWHAE, NDE1, CDK5, ARX, POMT2, TUBA1A, DCX, KATNB1, LAMB1, PAFAH1B1, POMT1, RELN
Specificity
9 %
Genes
100 %
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 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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