Zellweger syndrome

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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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,

To use the technique of complementation analysis to help define genotype and classify patients with clinical manifestations consistent with those of the disorders of peroxisome assembly, namely the Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP).

The Journal of pediatrics - Jul 1995