DLL3 gene related symptoms and diseases
All the information presented here about the DLL3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DLL3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Vertebral segmentation defect | Very Common - Between 80% and 100% cases |
| Congenital diaphragmatic hernia | Very Common - Between 80% and 100% cases |
| Abnormality of the ribs | Very Common - Between 80% and 100% cases |
| Abnormal form of the vertebral bodies | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DLL3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormal vertebral morphology
- Spina bifida
- Hemivertebrae
- Scapular winging
- Spina bifida occulta
- Abnormality of the urinary system
- Preaxial polydactyly
- Short thorax
And 47 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DLL3 gene
Here you will find a list of rare diseases related to the DLL3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS
Alternate names
AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies, jarcho-levin syndrome, spondylothoracic dysplasia, spondylothoracic dysostosis, costovertebral dysplasia
Description
Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.
Most common symptoms of AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS
- Intellectual disability
- Short stature
- Microcephaly
- Scoliosis
- Cleft palate
More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS
Search interest in DLL3
Potential gene panels for DLL3 gene
DLL3-Related Spondylocostal Dysostosis, Autosomal Recessive Panel
Switzerland.
By Centre of Molecular Diseases (CMM) CHUV
This panel specifically test the DLL3 gene.
More info about this panel Switzerland.
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
More info about this panel United States.
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
More info about this panel United States.
DLL3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the DLL3 gene.
More info about this panel Spain.
HES7, MESP2, LFNG, DLL3. NextGeneDx. Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica HES7, MESP2, LFNG, DLL3. NextGeneDx. Complete sequencing by NGS that also includes the following genes: HES7 DLL3 MESP2 LFNG
More info about this panel Spain.
Spondylocostal dysostosis type 1, AR (sequence analysis of DLL3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the DLL3 gene.
More info about this panel Portugal.
Spondylocostal dysostosis (NGS panel of 6 genes) Panel
Portugal.
By CGC Genetics Spondylocostal dysostosis (NGS panel of 6 genes) that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel Portugal.
Spondylocostal dysostosis (NGS panel of 6 genes) Panel
Portugal.
By CGC Genetics Spondylocostal dysostosis (NGS panel of 6 genes) that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel Portugal.
DLL3-Related Spondylocostal Dysostosis, Autosomal Recessive Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the DLL3 gene.
More info about this panel United Kingdom.
Spondylocostal Dysostosis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Spondylocostal Dysostosis Sequencing Panel with CNV Detection that also includes the following genes: TBX6 HES7 DLL3 MESP2 LFNG
More info about this panel United States.
Spondylocostal Dysostosis via DLL3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the DLL3 gene.
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
Spondylocostal dysostosis Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Spondylocostal dysostosis Deletion / Duplication panel that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel United States.
Spondylocostal dysostosis Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Spondylocostal dysostosis Comprehensive panel that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel United States.
Spondylocostal dysostosis NGS panel Panel
United States.
By Connective Tissue Gene Tests Spondylocostal dysostosis NGS panel that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel United States.
Spondylocostal dysostosis, autosomal recessive type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DLL3 gene.
More info about this panel Germany.
Potentially lethal skeletal disorders Panel Panel
Germany.
By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1
More info about this panel Germany.
Spondylocostal dysostosis type 1, autosomal recessive: DLL3 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the DLL3 gene.
More info about this panel Spain.
Congenital disorder of O-linked glycosylation (CDG) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital disorder of O-linked glycosylation (CDG) that also includes the following genes: XYLT1 B4GAT1 HES7 CHSY1 B3GALT6 FKRP POMGNT1 CHST3 POMT2 B3GLCT
More info about this panel Spain.
Spondylocostal dysostosis, autosomal recessive Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spondylocostal dysostosis, autosomal recessive that also includes the following genes: HES7 DLL3 MESP2 LFNG
More info about this panel Spain.
Disproportionate Short Stature: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11
More info about this panel United States.
Spondylocostal Dysostosis NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Spondylocostal Dysostosis NGS Panel that also includes the following genes: DLL3 MESP2 LFNG
More info about this panel United States.
DLL3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DLL3 gene.
More info about this panel United States.
Facial Dysostosis and Related Disorders Panel Panel
Finland.
By Blueprint Genetics Facial Dysostosis and Related Disorders Panel that also includes the following genes: SF3B4 SMC1A TCOF1 TWIST1 UBE2A HDAC8 SRCAP EVC2 POLR1C POLR1D
More info about this panel Finland.
Skeletal Dysplasias Core Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Autosomal recessive spondylocostal dysostosis type 1 Panel
Spain.
By Bioarray
This panel specifically test the DLL3 gene.
More info about this panel Spain.
Autosomal recessive spondylocostal dysostosis type 1 Panel
Spain.
By Bioarray
This panel specifically test the DLL3 gene.
More info about this panel Spain.
SPONDYLOCOSTAL DYSOSTOSIS (SYNDROME DE JARCHO-LEVIN) Panel
Spain.
By Laboratorio de Genetica Clinica SL SPONDYLOCOSTAL DYSOSTOSIS (SYNDROME DE JARCHO-LEVIN) that also includes the following genes: HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel Spain.
SPONDYLOCOSTAL DYSOSTOSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SPONDYLOCOSTAL DYSOSTOSIS NGS PANEL that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel Spain.
Autosomal Recessive Spondylocostal Dysostosis Type 1, Sequencing DLL3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the DLL3 gene.
More info about this panel Spain.
Spondylocostal Dysostosis , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Spondylocostal Dysostosis , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: TBX6 HES7 DLL3 MESP2 LFNG
More info about this panel Spain.
Spondylocostal Dysostosis, Autosomal Recessive: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Spondylocostal Dysostosis, Autosomal Recessive: gene sequencing panel that also includes the following genes: HES7 DLL3 MESP2 LFNG
More info about this panel Canada.
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