Opitz GBBB syndrome, X-linked |
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Prevalence (%) of clinical parameters based on data from 1 references describing 67 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Hypertelorism | skeletal | 99 % | 15558842 | 2012-01-18 | |
| Hypospadia | urinary | 72 % | 15558842 | 2012-01-18 | |
| Laryngotracheoesophageal anomalies | digestive | 50 % | 15558842 | 2012-01-18 | |
| Cleft lip or palate | skeletal | 48 % | 15558842 | 2012-01-18 | |
| Ear malformation | integumentary | 45 % | 15558842 | 2012-01-18 | |
| Developmental delay | nervous | 42 % | 15558842 | 2012-01-18 | |
| Broad nasal bridge | skeletal | 35 % | 15558842 | 2012-01-18 | |
| Anteverted nares | skeletal | 32 % | 15558842 | 2012-01-18 | |
| Anal atresia | digestive | 24 % | 15558842 | 2012-01-18 | |
| Cardiac structural defects | circulatory | 22 % | 15558842 | 2012-01-18 | |
| High arched palate | skeletal | 11 % | 15558842 | 2012-01-18 |
List of references:
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
Joyce So, Vanessa Suckow, Zofia Kijas, Vera Kalscheuer, Bettina Moser, Jennifer Winter, Marieke Baars, Helen Firth, Peter Lunt, Ben Hamel, Peter Meinecke, Claude Moraine, Sylvie Odent, Albert Schinzel, J J van der Smagt, Koen Devriendt, Beate Albrecht, Gabriele Gillessen-Kaesbach, Ineke van der Burgt, Fred Petrij, Laurence Faivre, Julie McGaughran, Fiona McKenzie, John M Opitz, Timothy Cox, Susann Schweiger,
American journal of medical genetics. Part A - Jan 2005