EFTUD2 gene related symptoms and diseases

All the information presented here about the EFTUD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to EFTUD2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Bicuspid aortic valve Very Common - Between 80% and 100% cases
Overfolded helix Very Common - Between 80% and 100% cases
Trigonocephaly Very Common - Between 80% and 100% cases
Radioulnar synostosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with EFTUD2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Deep philtrum
  • Atresia of the external auditory canal
  • Abnormality of the outer ear
  • Preauricular skin tag
  • Cupped ear
  • Progressive microcephaly
  • Postnatal microcephaly
  • Choanal atresia

And 63 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to EFTUD2 gene

Here you will find a list of rare diseases related to the EFTUD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME


Alternate names

MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME Is also known as mfdm syndrome, growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate, mfdm, mandibulofacial dysostosis, guion-almeida type, mandibulofacial dysostosis with microcephaly

Description

Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.

Most common symptoms of MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


More info about MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME

SOURCES: OMIM MESH ORPHANET


Potential gene panels for EFTUD2 gene

Mandibulofacial Dysostosis with Microcephaly Sequencing (EFTUD2) Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the EFTUD2 gene.

More info about this panel

Mandibulofacial Dysostosis with Microcephaly Deletion/Duplication Analysis (EFTUD2) Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the EFTUD2 gene.

More info about this panel

Microcephaly Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT

More info about this panel

Microcephaly Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18

More info about this panel

Facial Dysostosis Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Facial Dysostosis Sequencing Panel that also includes the following genes: SF3B4 TCOF1 ALX1 EVC2 POLR1C POLR1D CHD7 DHODH ZSWIM6 EFTUD2

More info about this panel

EFTUD2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the EFTUD2 gene.

More info about this panel

Craniofacial Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniofacial Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniofacial Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Mandibulofacial dysostosis with microcephaly (sequence analysis of EFTUD2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the EFTUD2 gene.

More info about this panel

Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel

Portugal.

By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT

More info about this panel

Mandibulofacial dysostosis with microcephaly Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the EFTUD2 gene.

More info about this panel

Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel with CNV Detection that also includes the following genes: SF3B4 TCOF1 POLR1C POLR1D DHODH EFTUD2

More info about this panel

Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SF3B4 SMC1A TCF12 TCOF1 TWIST1 HDAC8 SRCAP POLR1C POLR1D CREBBP

More info about this panel

Mandibulofacial Dysostosis, Guion-Almeida Type via EFTUD2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the EFTUD2 gene.

More info about this panel

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

Treacher Collins syndrome and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Treacher Collins syndrome and related disorders NGS panel that also includes the following genes: SF3B4 TCOF1 POLR1A POLR1C POLR1D DHODH TXNL4A EFTUD2 EDNRA

More info about this panel

Treacher Collins syndrome and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Treacher Collins syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SF3B4 TCOF1 POLR1A POLR1C POLR1D DHODH TXNL4A EFTUD2 EDNRA

More info about this panel

Treacher Collins syndrome and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Treacher Collins syndrome and related disorders Comprehensive panel that also includes the following genes: SF3B4 TCOF1 POLR1A POLR1C POLR1D DHODH TXNL4A EFTUD2 EDNRA

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Mandibulofacial dysostosis with microcephaly Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the EFTUD2 gene.

More info about this panel

Microcephaly panel Panel

Germany.

By Centogene AG - the Rare Disease Company Microcephaly panel that also includes the following genes: MSMO1 STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2

More info about this panel

Mandibulofacial dysostosis with microcephaly Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the EFTUD2 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Microcephaly Panel

Estonia.

By Asper Biogene Asper Biogene LLC Microcephaly that also includes the following genes: STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2 ASPM

More info about this panel

Brain malformations Panel

Estonia.

By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Microcephaly NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Microcephaly NGS Panel that also includes the following genes: MSMO1 STIL BUB1B VRK1 SLC25A19 CASK TSEN34 PCNT CENPJ NDE1

More info about this panel

EFTUD2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EFTUD2 gene.

More info about this panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Finland.

By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ

More info about this panel

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

Congenital Structural Heart Disease Panel Panel

Finland.

By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB

More info about this panel

Gastrointestinal Atresia Panel Panel

Finland.

By Blueprint Genetics Gastrointestinal Atresia Panel that also includes the following genes: SOX2 TTC7A CHD7 RFX6 PTF1A CLMP DHCR7 EFTUD2 FANCB FANCC

More info about this panel

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

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

MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the EFTUD2 gene.

More info about this panel

Mandibulofacial Dysostosis Guion-Almeida Type , Sequencing EFTUD2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the EFTUD2 gene.

More info about this panel

Facial Dysostosis Related Disorders , Panel Massive Sequencing (NGS) 10 Genes Panel

Spain.

By Reference Laboratory Genetics Facial Dysostosis Related Disorders , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: SF3B4 TCOF1 POLR1C POLR1D CHD7 MIR17HG DHODH EFTUD2 EVC MYCN

More info about this panel

Mandibulofacial Dysostosis with Microcephaly: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the EFTUD2 gene.

More info about this panel

Mandibulofacial Dysostosis with Microcephaly: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the EFTUD2 gene.

More info about this panel


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