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Sjögren-Larsson syndrome
Sjogren-Larsson syndrome (SLS) is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, impaired intellectual development, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006). [from OMIM]
Retinitis pigmentosa 73
Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene. [from MONDO]
Macular crystals
Crystalline deposits in the macula. [from HPO]
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