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Phenylketonuria

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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
Mental retardation nervous 98 % 13452670 2011-10-22
Microcephaly nervous 68 % 13452670 2011-10-22
Short stature skeletal 65 % 13452670 2011-10-22
Hyperactive reflexes nervous 57 % 13452670 2011-10-22
Tremor nervous 30 % 13452670 2011-10-22
Seizures nervous 26 % 13452670 2011-10-22
Rash integumentary 19 % 13452670 2011-10-22



List of references:


The variability in manifestations of untreated patients with phenylketonuria (phenylpyruvic aciduria).
R S PAINE,



Pediatrics - Aug 1957


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