Orofaciodigital Syndrome Xv; Ofd15

Clinical Features

Top most frequent phenotypes and symptoms related to Orofaciodigital Syndrome Xv; Ofd15

  • Hypertelorism
  • Abnormal facial shape
  • Wide nasal bridge
  • Ventriculomegaly
  • Anteverted nares
  • Agenesis of corpus callosum
  • Polydactyly
  • Hydronephrosis
  • Flat face
  • Postaxial polydactyly

And another 3 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Orofaciodigital Syndrome Xv; Ofd15 Is also known as oral-facial-digital syndrome, type xv, ofds xv.

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.


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Orofaciodigital Syndrome Xv; Ofd15 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel.

By Connective Tissue Gene Tests (United States).

RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Skeletal dysplasia and skeletal ciliopathy NGS panel.

By Connective Tissue Gene Tests (United States).

RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
KIAA0753.

By Fulgent Genetics Fulgent Genetics (United States).

KIAA0753
Specificity
100 %
Genes
100 %
Joubert Syndrome Panel.

By Blueprint Genetics (Finland).

CEP41, CFAP410, TMEM237, ZNF423, KIAA0586, ARMC9, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Ciliopathy Panel.

By Blueprint Genetics (Finland).

SDCCAG8, CEP41, CFAP410, USP9X, ZIC3, ARL6, NEK8, IFT122, IFT81, TMEM237, PNPLA6, TRIM32, ZNF423, ACVR2B, TRAF3IP1, INVS, CEP83, DCDC2, WDR19, CENPF , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %

We have -2 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TUMOR PREDISPOSITION SYNDROME; TPDS SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES; SEMDJL1 HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3 OCULOAURICULAR SYNDROME; OCACS GALLOWAY-MOWAT SYNDROME 1; GAMOS1 HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL; HBLRTFN SPINOCEREBELLAR ATAXIA 1; SCA1

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