Sjogren-Larsson syndrome

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Prevalence (%) of clinical parameters based on data from 2 references describing 21 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
Ichthyosis integumentary 100 % 11124298 2016-08-17
Decreased fatty aldehyde dehydrogenase activity integumentary 100 % 11124298 2016-08-17
White macular deposits nervous 100 % 11124298 2016-08-17
Leukodystrophy nervous 100 % 16476818 2016-08-17
Contracture nervous 100 % 16476818 2016-08-17
Ichthyosis integumentary 100 % 16476818 2016-08-17
Spasticity nervous 100 % 16476818 2016-08-17
Mental retardation nervous 93 % 11124298 2016-08-17
Spasticity nervous 93 % 11124298 2016-08-17
Visual acuity decrease nervous 92 % 11124298 2016-08-17
Photophobia nervous 87 % 11124298 2016-08-17
Astigmatism nervous 67 % 11124298 2016-08-17
Hyperactive reflexes nervous 33 % 16476818 2016-08-17
Strabismus nervous 13 % 11124298 2016-08-17
Nystagmus nervous 7 % 11124298 2016-08-17



List of references:


Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome.
M A Willemsen, J R Cruysberg, J J Rotteveel, A L Aandekerk, P H Van Domburg, A F Deutman,



American journal of ophthalmology - Dec 2000



Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.
Alexander Lossos, Moona Khoury, William B Rizzo, John M Gomori, Eyal Banin, Abraham Zlotogorski, Saleh Jaber, Oded Abramsky, Zohar Argov, Hanna Rosenmann,



Archives of neurology - Feb 2006