Schindler disease

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Prevalence (%) of clinical parameters based on data from 1 references describing 8 individuals

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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%)
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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