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skos:definition |
JABL: An inborn error of amino acid metabolism characterized by keratosis palmaris et plantaris, persistent dendritic lesions of the cornea with unaffected corneal sensitivity, photophobia, and persistent tearing in association with tyrosine aminotransaminase deficiency and elevated blood tyrosine level. Severe mental and somatic retardation occur in most cases. Visual complications may include blindness.
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