title: Caprine beta-mannosidosis: phenotypic features.
abstract: The clinical features of caprine beta-mannosidosis were evaluated in 10 newborn goats, one stillborn goat and one goat fetus. The phenotypic abnormalities observed in all 10 live affected animals included an inability to rise from a recumbent position, moderate to marked intention tremor, eye movements resembling pendular nystagmus, clinical deafness, bilateral Horner's syndrome, carpal contractures, pastern joint hyperextension, thickened skin and to a varying degree, a dome-shaped skull. Subjective evaluation suggested that most animals had a decreased muscle mass. Together, these characteristics represent a common phenotype which is expressed at birth in caprine beta-mannosidosis.
mesh_terms: D000818:Animals; D006332:Cardiomegaly / Q000662:veterinary; D005260:Female; D006041:Goats; D008297:Male; D008361:Mannosidases / Q000172:deficiency; D009461:Neurologic Manifestations; D010641:Phenotype; D011247:Pregnancy; D008363:alpha-Mannosidosis / Q000175:diagnosis / Q000473:pathology / Q000662:veterinary*; D044902:beta-Mannosidase
chemical_list: D008361:Mannosidases; D044902:beta-Mannosidase