Kahrizi Syndrome |
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Prevalence (%) of clinical parameters based on data from 1 references describing 3 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 |
| Short stature | endocrine | 100 % | 18781183 | 2024-05-01 | |
| Mental retardation | nervous | 100 % | 18781183 | 2024-05-01 | |
| Kyphosis | skeletal | 100 % | 18781183 | 2024-05-01 | |
| Contracture | nervous | 100 % | 18781183 | 2024-05-01 | |
| Facial dysmorphism | multi | 100 % | 18781183 | 2024-05-01 | |
| Full lips | integumentary | 100 % | 18781183 | 2024-05-01 | |
| Bulbuos nasal tip | integumentary | 100 % | 18781183 | 2024-05-01 | |
| Broad nasal bridge | skeletal | 100 % | 18781183 | 2024-05-01 | |
| Cataract | nervous | 100 % | 18781183 | 2024-05-01 | |
| Coloboma | nervous | 67 % | 18781183 | 2024-05-01 | |
| Haemangioma | nervous | 33 % | 18781183 | 2024-05-01 |
List of references:
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.
Kimia Kahrizi, Hossein Najmabadi, Roxana Kariminejad, Payman Jamali, Mahdi Malekpour, Masoud Garshasbi, Hans Hilger Ropers, Andreas Walter Kuss, Andreas Tzschach,
European journal of human genetics : EJHG - Jan 2009