| Contact us | |
| Return to database |
Prevalence (%) of clinical parameters based on data from 1 references describing 8 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 |
| Psychomotor retardation | nervous | 50 % | 8782044 | 2018-03-07 | |
| Lymphocytic vacuoles | lymphatic | 43 % | 8782044 | 2018-03-07 | |
| Seizures | nervous | 38 % | 8782044 | 2018-03-07 | |
| Angiokeratoma | nervous | 38 % | 8782044 | 2018-03-07 | |
| Hypotonia | nervous | 29 % | 8782044 | 2018-03-07 | |
| Edema | lymphatic | 25 % | 8782044 | 2018-03-07 |
List of references:
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.
J L Keulemans, A J Reuser, M A Kroos, R Willemsen, M M Hermans, A M van den Ouweland, J G de Jong, R A Wevers, W O Renier, D Schindler, M J Coll, A Chabas, H Sakuraba, Y Suzuki, O P van Diggelen,
Journal of medical genetics - Jun 1996