Cornelia De Lange Syndrome 4; Cdls4
Clinical Features
Top most frequent phenotypes and symptoms related to Cornelia De Lange Syndrome 4; Cdls4
- Global developmental delay
- Short stature
- Microcephaly
- Cleft palate
- Ptosis
- Brachydactyly
- Wide nasal bridge
- Anteverted nares
- Short nose
- Long philtrum
And another 24 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.Cornelia De Lange Syndrome 4; Cdls4 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Baylor Miraca Genetics Laboratories (United States).
RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)
View the complete list with 9 more genes
Specificity
4 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)
View the complete list with 63 more genes
Specificity
2 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SMC1A, HDAC8, SMC3, NIPBL, RAD21
Specificity
20 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, BTD, HDAC8, ADNP, ARID2, ARID1B, PHF6, ANKRD11, SMC3, PIGV, NIPBL, TBC1D24, HELLS, KMT2D , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
![]() By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).
HDAC8, SMC3, NIPBL, RAD21
Specificity
25 %
Genes
100 % |
![]() By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).
RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...)
View the complete list with 32 more genes
Specificity
2 %
Genes
100 % |
![]() By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).
RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA , (...)
View the complete list with 31 more genes
Specificity
2 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
You can get up to 61 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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