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Prevalence (%) of clinical parameters based on data from 4 references describing 191 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 |
| Syndactyly | skeletal | 100 % | 7645606 | 2012-01-25 | |
| Craniosynostosis | skeletal | 100 % | 16691624 | 2012-01-26 | |
| Proptosis | nervous | 92 % | 16876521 | 2012-01-26 | |
| Non-progressive ventriculomegaly | nervous | 76 % | 16691624 | 2012-01-26 | |
| Strabismus | nervous | 66 % | 16876521 | 2012-01-25 | |
| Mental retardation | nervous | 52 % | 3351902 | 2012-01-26 | |
| Emmetropia | nervous | 51 % | 16876521 | 2012-01-25 | |
| Visual impairment | nervous | 44 % | 16876521 | 2012-01-25 | |
| Astigmatism | nervous | 42 % | 16876521 | 2012-01-25 | |
| Septum pellucidum defect | nervous | 40 % | 16691624 | 2012-01-26 | |
| Hypermetropia | nervous | 34 % | 16876521 | 2012-01-25 | |
| Ptosis | nervous | 32 % | 16876521 | 2012-01-26 | |
| Anisometropia | nervous | 27 % | 16876521 | 2012-01-25 | |
| Amblyopia | nervous | 18 % | 16876521 | 2012-01-25 | |
| Myopia | nervous | 15 % | 16876521 | 2012-01-25 | |
| Hydrocephalus | nervous | 13 % | 16691624 | 2012-01-26 | |
| Optic atrophy | nervous | 8 % | 16876521 | 2012-01-25 | |
| Corpus callosum agenesis | nervous | 7 % | 16691624 | 2012-01-26 |
List of references:
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