Opitz-GBBB syndrome (Q3508750)
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A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form.
- Opitz G/BBB syndrome
- Telecanthus with associated abnormalities
- BBB syndrome
- Hypospadias-hypertelorism syndrome
- Hypospadias-dysphagia syndrome
- Opitz G Syndrome
- Opitz syndrome
- G syndrome
- Hypertelorism-oesophageal abnormality-hypospadias syndrome
- Opitz BBBG syndrome
- Opitz-G syndrome, type 2
- Opitz-Frias syndrome
- Hypertelorism hypospadias syndrome
- Hypospadias-dysphagia, syndrome
- Hypertelorism with esophageal abnormality and hypospadias
- GBBB syndrome
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Opitz-GBBB syndrome |
A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form. |
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Statements
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758.89
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C125487
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C125487
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Identifiers
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Sitelinks
Wikipedia(6 entries)
- bswiki Opitzov G/BBB sindrom
- dewiki Hypertelorismus-Hypospadie-Syndrom
- enwiki Opitz G/BBB syndrome
- frwiki Syndrome d’Opitz lié à l’X
- plwiki Zespół Opitza-G
- trwiki Opitz GBBB sendromu