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skos:definition |
MSH: An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism.,JABL: A syndrome of ichthyosis, spastic paralysis, and mental deficiency and other disorders with variable degree of severity.,NCI: A rare autosomal recessive inherited metabolic syndrome caused by mutations in the ALDH3A2 gene. It is characterized by deficiency of fatty aldehyde dehydrogenase. It is manifested with congenital ichthyosis, mental retardation, and leg paralysis.
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