| Contact us | |
| Return to database |
Prevalence (%) of clinical parameters based on data from 1 references describing 6 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 |
| Mental retardation | nervous | 83 % | 24581741 | 2024-05-28 | |
| Micrognathia | skeletal | 83 % | 24581741 | 2024-05-28 | |
| Hypotonia | nervous | 83 % | 24581741 | 2024-05-28 | |
| Epiphyseal dysplasia | multi | 67 % | 24581741 | 2024-05-28 | |
| Pectus excavatum | skeletal | 50 % | 24581741 | 2024-05-28 | |
| Bluish sclerae | nervous | 50 % | 24581741 | 2024-05-28 | |
| Advanced bone age | skeletal | 50 % | 24581741 | 2024-05-28 | |
| Hip dysplasia | skeletal | 50 % | 24581741 | 2024-05-28 | |
| Short limbs | endocrine | 33 % | 24581741 | 2024-05-28 | |
| Cleft lip or palate | multi | 33 % | 24581741 | 2024-05-28 | |
| Hyperlaxity | multi | 33 % | 24581741 | 2024-05-28 | |
| Simian creases | multi | 33 % | 24581741 | 2024-05-28 | |
| Coarse facial features | multi | 33 % | 24581741 | 2024-05-28 | |
| Narrowed thorax | skeletal | 33 % | 24581741 | 2024-05-28 | |
| Obesity | multi | 33 % | 24581741 | 2024-05-28 | |
| Respiratory distress | respiratory | 17 % | 24581741 | 2024-05-28 | |
| Pes planus | skeletal | 17 % | 24581741 | 2024-05-28 | |
| Lumbar lordosis | skeletal | 17 % | 24581741 | 2024-05-28 |
List of references:
XYLT1 mutations in Desbuquois dysplasia type 2.
Catherine Bui, Céline Huber, Beyhan Tuysuz, Yasemin Alanay, Christine Bole-Feysot, Jules G Leroy, Geert Mortier, Patrick Nitschke, Arnold Munnich, Valérie Cormier-Daire,
American journal of human genetics - Mar 2014