PDE6D gene related symptoms and diseases
All the information presented here about the PDE6D gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PDE6D gene
Symptoms // Phenotype | % Cases |
---|---|
Global developmental delay | Very Common - Between 80% and 100% cases |
Polydactyly | Very Common - Between 80% and 100% cases |
Foot polydactyly | Very Common - Between 80% and 100% cases |
Molar tooth sign on MRI | Very Common - Between 80% and 100% cases |
Postaxial polydactyly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PDE6D gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Growth delay
- Syndactyly
- Abnormal facial shape
Not very common - Between 30% and 50% cases
- Trigonocephaly
- Oculomotor apraxia
- Hand polydactyly
- Preaxial polydactyly
- Radial deviation of finger
And 90 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PDE6D gene
Here you will find a list of rare diseases related to the PDE6D. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
JOUBERT SYNDROME 22; JBTS22
Most common symptoms of JOUBERT SYNDROME 22; JBTS22
- Global developmental delay
- Growth delay
- Abnormal facial shape
- Intrauterine growth retardation
- Syndactyly
More info about JOUBERT SYNDROME 22; JBTS22
SOURCES: OMIM
OROFACIODIGITAL SYNDROME TYPE 6
Alternate names
OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome, polydactyly-cleft lip/palate-psychomotor retardation syndrome, polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation, vÁradi-papp syndrome, joubert syndrome with orofaciodigital defect, oral-facial-digital syndrome type 6,
Description
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.
Most common symptoms of OROFACIODIGITAL SYNDROME TYPE 6
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about OROFACIODIGITAL SYNDROME TYPE 6
Search interest in PDE6D
Potential gene panels for PDE6D gene
Joubert/Meckel-Gruber syndrome Panel Panel
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By Genetic Services Laboratory University of Chicago Joubert/Meckel-Gruber syndrome Panel that also includes the following genes: CEP41 TMEM237 KIF14 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel![](/img/flags/United-states.png)
Renal Cystic Disorders Sequencing Panel Panel
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By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6
More info about this panel![](/img/flags/United-states.png)
Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel Panel
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By Genetic Services Laboratory University of Chicago Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel that also includes the following genes: CEP41 TMEM237 KIF14 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel![](/img/flags/United-states.png)
Ataxia Exome Panel Panel
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By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel![](/img/flags/United-states.png)
Joubert syndrome (NGS panel for 24 genes) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics Joubert syndrome (NGS panel for 24 genes) that also includes the following genes: CEP41 TMEM237 ZNF423 INPP5E AHI1 TCTN3 EXOC8 TMEM216 ARL13B TTC21B
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Ciliopathies (NGS panel for 90 genes) Panel
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By CGC Genetics Ciliopathies (NGS panel for 90 genes) that also includes the following genes: SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 TMEM237 TRIM32 NME8
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel![](/img/flags/United-states.png)
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel![](/img/flags/United-states.png)
Ciliopathy Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237
More info about this panel![](/img/flags/United-states.png)
Joubert syndrome and related disorders NGS panel Panel
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By Connective Tissue Gene Tests Joubert syndrome and related disorders NGS panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel![](/img/flags/United-states.png)
Joubert syndrome and related disorders Deletion / Duplication panel Panel
![](/img/flags/United-states.png)
By Connective Tissue Gene Tests Joubert syndrome and related disorders Deletion / Duplication panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel![](/img/flags/United-states.png)
Joubert syndrome and related disorders Comprehensive panel Panel
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By Connective Tissue Gene Tests Joubert syndrome and related disorders Comprehensive panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel![](/img/flags/United-states.png)
Mental retardation - different panels Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Hereditary kidney disorders - different panels Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
AllNeuro panel Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Joubert syndrome type 22 Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Centogene AG - the Rare Disease Company
This panel specifically test the PDE6D gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Joubert Syndrome Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Joubert Syndrome Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Joubert Syndrome Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Joubert Syndrome Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Joubert Syndrome Panel
![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
By Asper Biogene Asper Biogene LLC Joubert Syndrome that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Retinal Dystrophy Panel Panel
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By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel![](/img/flags/United-states.png)
MVL Vision Panel Panel
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By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel![](/img/flags/United-states.png)
Invitae Joubert and Meckel-Gruber Syndromes Panel Panel
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By Invitae Invitae Joubert and Meckel-Gruber Syndromes Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel![](/img/flags/United-states.png)
Invitae Ciliopathies Panel Panel
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By Invitae Invitae Ciliopathies Panel that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 IFT122 TMEM237
More info about this panel![](/img/flags/United-states.png)
PDE6D Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the PDE6D gene.
More info about this panel![](/img/flags/United-states.png)
Retinal Dystrophy Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Joubert Syndrome Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
By Blueprint Genetics Joubert Syndrome Panel that also includes the following genes: CEP41 CFAP410 TMEM237 ZNF423 KIAA0586 ARMC9 INPP5E AHI1 B9D1 TCTN3
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Ciliopathy Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
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