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Prevalence (%) of clinical parameters based on data from 1 references describing 15 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 |
| Developmental delay | nervous | 100 % | 37023243 | 2024-04-19 | |
| Hypotonia | skeletal | 100 % | 37023243 | 2024-04-24 | |
| Mental retardation | nervous | 100 % | 37023243 | 2024-04-24 | |
| Visual impairment | nervous | 93 % | 37023243 | 2024-04-24 | |
| Feeding difficulties | digestive | 93 % | 37023243 | 2024-04-24 | |
| Seizures | nervous | 60 % | 37023243 | 2024-04-24 | |
| Hearing impairment | nervous | 20 % | 37023243 | 2024-04-24 | |
| Short stature | endocrine | 20 % | 37023243 | 2024-04-24 |
List of references:
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