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.
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 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 % |
You can get up to 1 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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