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| Aspirin-induced asthma
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| Pendular nystagmus
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| Corneal stromal edema
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| Decreased fertility in males
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| Areflexia of upper limbs
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| Hemeralopia
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| Seesaw nystagmus
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| Retinal flecks
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| Compensated hemolytic anemia
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| Severe carpal ossification delay
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| refractory macrocytic anemia
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| Thiamine-responsive megaloblastic anemia
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| Impaired ADP-induced platelet aggregation
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| Refractory sideroblastic anemia
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| Acute episodes of neuropathic symptoms
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| Upper limb muscle weakness
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| Babinski sign
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| Segmental peripheral demyelination/remyelination
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| EMG
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| Medial arterial calcification
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| Stage 4 chronic kidney disease
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| Pseudoexfoliation
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| Stage 2 chronic kidney disease
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| Stage 3 chronic kidney disease
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| Chronic kidney disease
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| Stage 1 chronic kidney disease
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| Cloacal abnormality
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| Persistent cloaca
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| Abnormality of the suspensory ligament of lens
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| Phacodonesis
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| Pointed hand bones
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| Patchy sclerosis of hand bones
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| Overmodelled hand bones
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| Notched hand bones
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| Infantile hypercalcemia
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| Congenital goiter
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| Irregular sclerosis of hand bones
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| Irregular ossification of hand bones
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| Abnormality of monocarboxylic acid metabolism
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| Chromosomal breakage induced by ionizing radiation
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| Abnormality of the striatum
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| Abnormality of dicarboxylic acid metabolism
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| Congenital adrenal hyperplasia
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| Adrenocorticotropin (ACTH) receptor (ACTHR) defect
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| Sclerotic foci in hand bones
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| Pseudoepiphyses of hand bones
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| Hypoplasia of the pharynx
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| Abnormal dense tubular system
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| Abnormality of superior crus of antihelix
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| Episodic tachypnea
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| Prominent superior crus of antihelix
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| Underdeveloped superior crus of antihelix
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| Serpiginous stem of antihelix
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| Prominent stem of antihelix
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| Abnormality of inferior crus of antihelix
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| Aplasia/Hypoplasia of the earlobes
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| Absent antitragus
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| Thin ear helix
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| Unilateral facial palsy
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| Irregular epiphysis of the middle phalanx of the 5th toe
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| Prominent ear helix
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| Abnormality of the palate
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| Conjunctival nodule
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| Cleft helix
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| Flared metaphysis of middle phalanx of index finger
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| Metaphyseal abnormality of middle phalanx of the 2nd finger
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| Unilateral deafness
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| Dimple on nasal tip
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| Bullet-shaped middle toe phalanx
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| Curved middle toe phalanx
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| Aplasia/Hypoplasia of the middle phalanges of the toes
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| Broad middle phalanges of the toes
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| Triangular shaped distal phalanges of the toes
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| Duplication of distal phalanx of toe
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| Patchy sclerosis of distal toe phalanx
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| Symphalangism affecting the distal phalanges of the toes
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| Osteolytic defects of the middle phalanges of the toes
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| Patchy sclerosis of middle toe phalanx
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| Abnormality of circulating enzyme level
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| Abnormality of mucopolysaccharide metabolism
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| Abnormality of prostaglandin metabolism
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| Abnormality of unsaturated fatty acid metabolism
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| Abnormality of cardiovascular system physiology
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| Abnormality of the gastrointestinal tract
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| Abnormality of the fallopian tube
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| Aplasia/Hypoplasia of the vagina
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| Internal hemorrhage
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| Abnormality of blood circulation
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| Epiphyseal stippling of toe phalanges
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| 6 metacarpals
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| Broad finger
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| Growth abnormality
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| Metacarpal osteolysis
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| Failure to thrive
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| Broad phalanges of the 4th toe
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| Bullet-shaped 4th toe phalanx
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| Abnormality of the proximal phalanx of the 3rd toe
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| Aplasia/Hypoplasia of the phalanges of the 4th toe
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| Patchy sclerosis of 4th toe phalanx
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| Symphalangism affecting the phalanges of the 4th toe
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