Omodysplasia 2; Omod2
Description
Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, shortened first metacarpal, and craniofacial dysmorphism. See also OMOD1 (OMIM ).
Genes related to Omodysplasia 2; Omod2
- FZD2
Clinical Features
Top most frequent phenotypes and symptoms related to Omodysplasia 2; Omod2
- Hypertelorism
- Micrognathia
- Cryptorchidism
- Depressed nasal bridge
- Frontal bossing
- Short nose
- Long philtrum
- Malar flattening
- Hypospadias
- Micropenis
Incidence and onset information
— Not enough data available about incidence and published cases.
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Omodysplasia 2; Omod2 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Robinow syndrome NGS panel.
By Connective Tissue Gene Tests in United States.
WNT5A, ROR2, DVL1, NXN, FZD2, DVL3
Specificity
17 %
Genes
100 % |
Robinow syndrome Comprehensive panel.
By Connective Tissue Gene Tests in United States.
WNT5A, ROR2, DVL1, NXN, FZD2, DVL3
Specificity
17 %
Genes
100 % |
Omodysplasia Comprehensive panel.
By Connective Tissue Gene Tests in United States.
GPC6, FZD2
Specificity
50 %
Genes
100 % |
Omodysplasia NGS panel.
By Connective Tissue Gene Tests in United States.
GPC6, FZD2
Specificity
50 %
Genes
100 % |
Robinow syndrome Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
WNT5A, ROR2, DVL1, NXN, FZD2, DVL3
Specificity
17 %
Genes
100 % |
Omodysplasia Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
GPC6, FZD2
Specificity
50 %
Genes
100 % |
FZD2.
By Fulgent Genetics Fulgent Genetics in United States.
FZD2
Specificity
100 %
Genes
100 % |
Alternate names
Omodysplasia 2; Omod2 Is also known as omodysplasia, autosomal dominant;.
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