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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 | 100 % | 9863601 | 2016-03-16 | |
| Macrocephaly | skeletal | 83 % | 9863601 | 2016-03-16 | |
| Macroorchidism | reproductive | 80 % | 9863601 | 2016-03-16 | |
| Seizures | nervous | 33 % | 9863601 | 2016-03-16 |
List of references:
A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21.
J P Johnson, R Nelson, C E Schwartz,
Journal of medical genetics - Dec 1998