Seckel Syndrome 9; Sckl9

Clinical Features

Top most frequent phenotypes and symptoms related to Seckel Syndrome 9; Sckl9

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia
  • Low-set ears
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Talipes equinovarus

And another 29 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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Seckel Syndrome 9; Sckl9 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
Ambiguous Genitalia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP4, SEMA3A, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
100 %
Microcephalic primordial dwarfism Comprehensive panel.

By Connective Tissue Gene Tests (United States).

XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Microcephalic primordial dwarfism Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Microcephalic primordial dwarfism NGS panel.

By Connective Tissue Gene Tests (United States).

XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %

We have 1 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VENTRICULAR SEPTAL DEFECT 2; VSD2 THANATOPHORIC DYSPLASIA, TYPE II; TD2 MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 PIEBALD TRAIT; PBT HEMOGLOBIN, HIGH ALTITUDE ADAPTATION; HALAH HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more