| Contact us | |
| Return to database |
Prevalence (%) of clinical parameters based on data from 1 references describing 20 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 | 90 % | 22025593 | 2018-03-04 | |
| Startling | nervous | 70 % | 22025593 | 2018-03-04 | |
| Hypotonia | nervous | 65 % | 22025593 | 2018-03-04 | |
| Fine motor problems | nervous | 55 % | 22025593 | 2018-03-04 | |
| Visual impairment | nervous | 50 % | 22025593 | 2018-03-04 | |
| Seizures | nervous | 50 % | 22025593 | 2018-03-04 | |
| Psychomotor regression | nervous | 45 % | 22025593 | 2018-03-04 | |
| Hearing loss | nervous | 45 % | 22025593 | 2018-03-04 | |
| Failure to thrive | multi | 45 % | 22025593 | 2018-03-04 | |
| Sleep disturbances | nervous | 35 % | 22025593 | 2018-03-04 | |
| Screaming episodes | nervous | 15 % | 22025593 | 2018-03-04 | |
| Irritability | nervous | 15 % | 22025593 | 2018-03-04 |
List of references:
Natural history of infantile G(M2) gangliosidosis.
Annette E Bley, Ourania A Giannikopoulos, Doug Hayden, Kim Kubilus, Cynthia J Tifft, Florian S Eichler,
Pediatrics - Nov 2011