Fraser Syndrome 3; Frasrs3
Description
Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see {219000}.
Clinical Features
Top most frequent phenotypes and symptoms related to Fraser Syndrome 3; Frasrs3
- Micrognathia
- Hydrocephalus
- Syndactyly
- Abnormality of the pinna
- Wide nose
- Renal agenesis
- Convex nasal ridge
- Oligohydramnios
- Short toe
- Cutaneous syndactyly
And another 5 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.Fraser Syndrome 3; Frasrs3 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Genetic Services Laboratory University of Chicago (United States).
ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)
View the complete list with 52 more genes
Specificity
2 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...)
View the complete list with 41 more genes
Specificity
2 %
Genes
100 % |
![]() By Institute for Human Genetics University Clinic Freiburg (Germany).
GRIP1
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
GRIP1
Specificity
100 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
GRIP1, FRAS1, FREM1, FREM2
Specificity
25 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
ROBO2, SALL1, BMP4, BMP7, SIX1, SIX2, SIX5, SOX11, TBX18, HNF1B, UMOD, UPK3A, WNT4, TRAP1, SRGAP1, CDC5L, SOX17, HPSE2, GRIP1, CHD1L , (...)
View the complete list with 27 more genes
Specificity
3 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
SALL1, BMP4, BMP7, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, WDR11, ZEB2, SETBP1, TP63, PCNT, ZFPM2, UBR1, FIG4, CDKN1C, ARX , (...)
View the complete list with 53 more genes
Specificity
2 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)
View the complete list with 187 more genes
Specificity
1 %
Genes
100 % |
You can get up to 27 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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