Seckel Syndrome 8; Sckl8

Description

Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by Shanske et al., 1997).For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Seckel Syndrome 8; Sckl8

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Intrauterine growth retardation
  • Severe short stature
  • Kyphoscoliosis
  • Paraplegia

And another 3 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.

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.

Seckel Syndrome 8; Sckl8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mitochondrial Depletion Panel.

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

SLC25A4, SPG7, SUCLA2, SUCLG1, TWNK, TFAM, TK2, FBXL4, APTX, MGME1, MFN2, RRM2B, AGK, ABAT, DGUOK, DNA2, TYMP, GFER, MPV17, OPA1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Seckel Syndrome Panel.

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

NIN, PCNT, CENPJ, CEP63, CEP152, DNA2, TRAIP, LIG4, ATR, RBBP8
Specificity
10 %
Genes
100 %
Comprehensive Primordial Dwarfism Panel.

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

PLK4, XRCC4, CRIPT, PCNT, ORC6, CENPJ, CDC6, GMNN, RTTN, CDK5RAP2, CUL7, POC1A, CDT1, LARP7, CCDC8, SASS6, CEP63, OBSL1, CEP152, DNA2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Progressive external ophthalmoplegia (NGS panel of 12 genes).

By CGC Genetics (Portugal).

SLC25A4, TWNK, TK2, MGME1, RRM2B, RNASEH1, DGUOK, DNA2, TYMP, OPA1, POLG, POLG2
Specificity
9 %
Genes
100 %
Progressive external ophthalmoplegia (NGS panel of 12 genes).

By CGC Genetics (Portugal).

SLC25A4, TWNK, TK2, MGME1, RRM2B, RNASEH1, DGUOK, DNA2, TYMP, OPA1, POLG, POLG2
Specificity
9 %
Genes
100 %
Autosomal Dominant Progressive External Ophthalmoplegia via DNA2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

DNA2
Specificity
100 %
Genes
100 %
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SUCLG2, TWNK, TK2, FBXL4, APTX, MGME1, MFN2, RRM2B, AGK, DGUOK, DNA2, TYMP, MPV17, OPA1, OPA3 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...)

View the complete list with 154 more genes
Specificity
1 %
Genes
100 %

You can get up to 13 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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