Mito DB

Prevalence (%) of clinical parameters based on data from 2 references describing 21 individuals

Add new symptom/sign to this disease

Select symptom from list or write it in the box		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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Name	Institute	Phone number	Email address

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 impairment	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