Lethal Congenital Contracture Syndrome 9; Lccs9

Clinical Features

Top most frequent phenotypes and symptoms related to Lethal Congenital Contracture Syndrome 9; Lccs9

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Low-set ears
  • Flexion contracture
  • Depressed nasal bridge
  • Hypertension
  • Intrauterine growth retardation

And another 25 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

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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Lethal Congenital Contracture Syndrome 9; Lccs9 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Congenital contracture syndrome extended NGS panel.

By Connective Tissue Gene Tests (United States).

TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Congenital contracture syndrome extended Comprehensive panel.

By Connective Tissue Gene Tests (United States).

TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Congenital contracture syndrome extended Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Lethal congenital contracture syndrome and related disorders Comprehensive Panel.

By Connective Tissue Gene Tests (United States).

VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Lethal congenital contracture syndrome and related disorders NGS Panel.

By Connective Tissue Gene Tests (United States).

VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel.

By Connective Tissue Gene Tests (United States).

VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Congenital Myasthenic Syndromes and Arthrogryposis Panel.

By CeGaT GmbH (Germany).

SCN4A, SNAP25, SYT2, TNNI2, TNNT3, TPM2, ADGRG6, SYNE1, FKBP10, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, ALG2, ADCY6, CHST14 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %

We have 2 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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