Fraser syndrome

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Prevalence (%) of clinical parameters based on data from 1 references describing 59 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
Syndactyly integumentary 95 % 18000968 2014-04-23
Cryptophthalmos integumentary 85 % 18000968 2014-04-23
Renal agenesis urinary 78 % 18000968 2014-04-23
Ear malformation integumentary 75 % 18000968 2014-04-23
Ambiguous genitalia reproductive 66 % 18000968 2014-04-23
Nose malformation integumentary 53 % 18000968 2014-04-23
Larynx atresia respiratory 49 % 18000968 2014-04-23
Anal atresia integumentary 32 % 18000968 2014-04-23
Low-set umbilicus integumentary 29 % 18000968 2014-04-23
Skull ossification defect skeletal 12 % 18000968 2014-04-23
Ureter agenesis urinary 10 % 18000968 2014-04-23
Cardiac structural defects circulatory 10 % 18000968 2014-04-23
Cleft lip or palate integumentary 9 % 18000968 2014-04-23
Mental retardation nervous 7 % 18000968 2014-04-23
Meningo-encephalocele nervous 5 % 18000968 2014-04-23



List of references:


Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria.
Mieke M van Haelst, Peter J Scambler, , Raoul C M Hennekam,



American journal of medical genetics. Part A - Dec 2007