Lethal Arthrogryposis-anterior Horn Cell Disease Syndrome

Clinical Features

Top most frequent phenotypes and symptoms related to Lethal Arthrogryposis-anterior Horn Cell Disease Syndrome

  • Growth delay
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation
  • Skeletal muscle atrophy
  • Short neck
  • Edema
  • Arthrogryposis multiplex congenita
  • Congenital contracture
  • Akinesia

And another 4 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Lethal Arthrogryposis-anterior Horn Cell Disease Syndrome Is also known as vuopala disease, laahd.

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.

Lethal Arthrogryposis-anterior Horn Cell Disease Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neuromuscular Disorders Panel.

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

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Congenital Contractures Panel.

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

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Comprehensive Neuromuscular Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
GLE1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

GLE1
Specificity
100 %
Genes
100 %
Lethal congenital contracture syndrome (LCCS1).

By Laboratory of Genetics BioTe21 Adam Master (Poland).

GLE1
Specificity
100 %
Genes
100 %
Lethal arthrogryposis with anterior horn cell disease (LAAHD).

By Laboratory of Genetics BioTe21 Adam Master (Poland).

GLE1
Specificity
100 %
Genes
100 %
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CHRNA1, CHRND, CHRNE, CHRNG, CNTN1, COLQ, DOK7, KLHL40, GLE1, MUSK, RAPSN
Specificity
10 %
Genes
100 %
GLE1-Related Disorders via GLE1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GLE1
Specificity
100 %
Genes
100 %

You can get up to 22 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

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