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| Tertiary hyperparathyroidism
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| Uninodular goiter
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| Absent lacrimal punctum
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| Thyroid macrofollicular adenoma
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| Thyroid follicular adenoma
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| Thyroid papillary adenoma
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| Thyroid microfollicular adenoma
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| Anaplastic thyroid carcinoma
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| Thyroid atypical adenoma
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| Iridocyclitis
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| Keratoconjunctivitis sicca
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| Moderate sensorineural hearing impairment
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| Static ophthalmoparesis
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| Median cleft lip and palate
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| Lung fibroma
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| Aged leonine appearance
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| Impaired visuospatial constructive cognition
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| Cerebellar glioma
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| Brainstem glioma
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| Hemangioblastoma
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| Hyoplasia of the Leydig cells
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| Hyperplasia of the Leydig cells
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| Bifid nail
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| Lip freckle
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| Pinealoma
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| Defective B cell activation
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| Complete heart block with narrow QRS complexes
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| Left postterior fascicular block
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| Calcific aortic valve stenosis
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| Complete heart block with broad RS complexes
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| Dysplastic aortic valve
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| Premature arteriosclerosis
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| Membranous subvalvular aortic stenosis
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| Alzheimer disease
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| Complete duplication of the proximal phalanx of the 2nd toe
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| Partial duplication of the proximal phalanx of the 2nd toe
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| Triangular shaped distal phalanx of the 2nd toe
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| Duplication of the distal phalanx of the 2nd toe
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| Complete duplication of the middle phalanx of the 2nd toe
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| Partial duplication of the middle phalanx of the 2nd toe
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| Complete duplication of the distal phalanx of the 2nd toe
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| Partial duplication of the distal phalanx of the 2nd toe
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| Partial duplication of phalanx of the 2nd toe
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| Complete duplication of the phalanges of the 2nd toe
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| Spastic tetraplegia
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| Abnormality of the femoral metaphysis
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| Bowing of the arm
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| Sclerosis of the distal phalanx of the 2nd toe
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| Abnormal number of teeth
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| Abnormality of dental morphology
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| Abnormality of primary teeth
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| Premature loss of teeth
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| Bowing of the long bones
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| Abnormality of the dental root
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| Agenesis of incisor
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| Depressed nasal bridge
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| Hypoplastic nasal bridge
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| Ataxia
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| Delayed tarsal ossification
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| Spasticity
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| Absent nasal bridge
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| Abnormality of the right ventricle
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| Lethargy
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| Abnormality of the nares
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| Abnormality of the nasolabial region
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| Coma
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| Spastic paraplegia
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| Overlapping fingers
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| Intestinal duplication
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| Abnormal pigmentation of the oral mucosa
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| Chondritis
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| Synotia
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| Dyskinesia
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| Trigeminal neuralgia
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| Angioedema
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| Third degree atrioventricular block
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| Long phalanx of finger
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| Prominent palmar flexion creases
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| Ulnar deviation of thumb
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| Swan neck-like deformities of the fingers
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| Disharmonious carpal bone
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| Proximal symphalangism (hands)
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| Mesoaxial hand polydactyly
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| Finger joint hyperextensibility
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| Abnormality of erythrocytes
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| Pancytopenia
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| Neutropenia
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| Abnormality of neutrophils
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| Thrombocytopenia
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| Abnormality of thrombocytes
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| Abnormality of blood and blood-forming tissues
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| Acroosteolysis of distal phalanges (feet)
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| Transient pulmonary infiltrates
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| Maldevelopment of radioulnar joint
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| Abnormality of eosinophils
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| Hemolytic anemia
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| Horizontal jerk nystagmus
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| Curved proximal phalanx of the 4th toe
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| Curved middle phalanx of the 4th toe
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| Facial palsy secondary to cranial hyperostosis
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