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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 |
| Mental retardation | nervous | 100 % | 20684000 | 2024-05-01 | |
| Hypertrichosis | integumentary | 100 % | 20684000 | 2024-05-01 | |
| Long eyelashes | integumentary | 100 % | 20684000 | 2024-05-01 | |
| Prominent eyebrows | integumentary | 100 % | 20684000 | 2024-05-01 | |
| Short stature | skeletal | 100 % | 20684000 | 2024-05-01 | |
| Broad nasal bridge | skeletal | 100 % | 20684000 | 2024-05-01 | |
| Large mouth | digestive | 100 % | 20684000 | 2024-05-01 | |
| Thin lips | integumentary | 100 % | 20684000 | 2024-05-01 | |
| Everted lower lip | integumentary | 100 % | 20684000 | 2024-05-01 | |
| Prominent columella | integumentary | 100 % | 20684000 | 2024-05-01 | |
| Diastema | digestive | 100 % | 20684000 | 2024-05-01 | |
| Microcephaly | nervous | 67 % | 20684000 | 2024-05-01 | |
| Finger deformity | skeletal | 67 % | 20684000 | 2024-05-01 | |
| Hearing loss | nervous | 67 % | 20684000 | 2024-05-01 | |
| Scoliosis | skeletal | 33 % | 20684000 | 2024-05-01 |
List of references:
Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity.
Fowzan S Alkuraya,
American journal of medical genetics. Part A - Sep 2010