Zellweger syndrome

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Prevalence (%) of clinical parameters based on data from 1 references describing 88 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
Facial dysmorphism skeletal 100 % 7541833 2012-01-10
Developmental delay multi 100 % 7541833 2012-01-10
Hepatomegaly digestive 91 % 7541833 2012-01-10
Hypotonia nervous 89 % 7541833 2012-01-10
Retinitis pigmentosa nervous 77 % 7541833 2012-01-10
Seizures nervous 75 % 7541833 2012-01-10
Cataract nervous 62 % 7541833 2012-01-10
Hearing loss nervous 62 % 7541833 2012-01-10
Kidney cysts urinary 54 % 7541833 2012-01-10
Neuronal migration defect nervous 46 % 7541833 2012-01-10
Chondrodysplasia punctata skeletal 40 % 7541833 2012-01-10
Demyelination nervous 29 % 7541833 2012-01-10



List of references:


Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.
A B Moser, M Rasmussen, S Naidu, P A Watkins, M McGuinness, A K Hajra, G Chen, G Raymond, A Liu, D Gordon,



The Journal of pediatrics - Jul 1995